ClinVar Genomic variation as it relates to human health
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter)
Variation ID: 6754 Accession: VCV000006754.56
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 12p11.21 12: 32879021 (GRCh38) [ NCBI UCSC ] 12: 33031955 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 4, 2013 Oct 8, 2024 Jan 31, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001005242.3:c.235C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001005242.2:p.Arg79Ter nonsense NM_004572.4:c.235C>T NP_004563.2:p.Arg79Ter nonsense NC_000012.12:g.32879021G>A NC_000012.11:g.33031955G>A NG_009000.1:g.22826C>T LRG_398:g.22826C>T LRG_398t1:c.235C>T LRG_398p1:p.Arg79Ter - Protein change
- R79*
- Other names
- p.R79*:CGA>TGA
- Canonical SPDI
- NC_000012.12:32879020:G:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD), exomes 0.00000
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD) 0.00005
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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PKP2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1940 | 1993 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (8) |
criteria provided, multiple submitters, no conflicts
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Jan 31, 2024 | RCV000007146.31 | |
Pathogenic (1) |
criteria provided, single submitter
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Dec 17, 2021 | RCV000246785.12 | |
Pathogenic (7) |
criteria provided, multiple submitters, no conflicts
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Aug 1, 2022 | RCV000183722.39 | |
Pathogenic (1) |
criteria provided, single submitter
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Feb 13, 2019 | RCV000211843.14 | |
Pathogenic (1) |
criteria provided, single submitter
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Feb 28, 2018 | RCV001841230.9 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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Nov 29, 2023 | RCV001190184.13 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Oct 08, 2014)
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criteria provided, single submitter
Method: clinical testing
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Arrhythmogenic right ventricular dysplasia 9
Affected status: yes
Allele origin:
germline
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
Study: VKGL Data-share Consensus
Accession: SCV000743461.1 First in ClinVar: Apr 19, 2018 Last updated: Apr 19, 2018 |
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Pathogenic
(Jan 30, 2018)
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criteria provided, single submitter
Method: clinical testing
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Arrhythmogenic right ventricular dysplasia 9
Affected status: unknown
Allele origin:
germline
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Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
Accession: SCV000840033.1
First in ClinVar: Oct 13, 2018 Last updated: Oct 13, 2018 |
Comment:
A heterozygous c.235C>T (p.R79*) pathogenic variant in the PKP2 gene was detected in this individual. This variant has been previously described in multiple individuals with … (more)
A heterozygous c.235C>T (p.R79*) pathogenic variant in the PKP2 gene was detected in this individual. This variant has been previously described in multiple individuals with arrhythmogenic right ventricular cardiomyopathy (PMID 19955750, 15489853, 21301620, 21606396). In addition, experimental studies have shown that this variant results in reduced PKP2 protein expression, a loss of localization to sites of cell-cell contact and reduces interaction with connexin 43 protein in vitro (PMID 19084810). Therefore, we consider this variant to be pathogenic. (less)
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Pathogenic
(Mar 13, 2018)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Eurofins Ntd Llc (ga)
Accession: SCV000860205.1
First in ClinVar: Dec 19, 2017 Last updated: Dec 19, 2017 |
Sex: mixed
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Pathogenic
(Feb 13, 2019)
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criteria provided, single submitter
Method: clinical testing
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Arrhythmogenic right ventricular cardiomyopathy
Affected status: unknown
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000061874.7
First in ClinVar: May 03, 2013 Last updated: Jul 03, 2020 |
Comment:
The p.Arg79X variant in PKP2 has been previously identified in >15 individuals with ARVC and segregated with disease in >15 affected individuals from >5 families … (more)
The p.Arg79X variant in PKP2 has been previously identified in >15 individuals with ARVC and segregated with disease in >15 affected individuals from >5 families (Gerull 2004, Dalal 2006, van Tintelen 2006, den Haan 2009, Christensen 2010, van der Zwaag 2010, Larsen 2012, Noorman 2013, Rasmussen 2014, LMM data). This variant has also been identified in 1/111652 European chromosomes by gnomAD (http://gnomad.broadinstitute.org). This nonsense variant leads to a premature termination codon at position 79, which is predicted to lead to a truncated or absent protein. In vitro functional studies support that this variant results in reduced PKP2 expression (Joshi-Mukherjee 2008). Heterozygous loss of PKP2 function is an established disease mechanism in individuals with ARVC. In summary, this variant meets criteria to be classified as pathogenic for ARVC in an autosomal dominant manner. ACMG/AMP Criteria applied: PVS1, PS4, PP1_Strong, PM2. (less)
Number of individuals with the variant: 32
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Pathogenic
(Feb 17, 2022)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000236200.14
First in ClinVar: Jul 05, 2015 Last updated: Mar 04, 2023 |
Comment:
Not observed at significant frequency in large population cohorts (gnomAD); Published functional studies demonstrate that this variant reduces the expression level of plakophilin and alters … (more)
Not observed at significant frequency in large population cohorts (gnomAD); Published functional studies demonstrate that this variant reduces the expression level of plakophilin and alters desmosomal protein-protein interactions (Joshi-Mukherjee et al., 2008; Rasmussen et al., 2014); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 31386562, 23810883, 24704780, 15489853, 16549640, 16567567, 20031617, 19955750, 21301620, 20829228, 22177269, 24125834, 25765472, 26800703, 21606396, 27532257, 20857253, 28152038, 23889974, 23178689, 30847666, 31737537, 31447099, 31402444, 20031616, 19084810, 33662488, 33232181, 32372669, 32522011, 31729605, 33500567) (less)
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Pathogenic
(-)
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criteria provided, single submitter
Method: clinical testing
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Cardiomyopathy
Affected status: yes
Allele origin:
germline
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Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
Accession: SCV004046187.1
First in ClinVar: Oct 21, 2023 Last updated: Oct 21, 2023 |
Comment:
This nonsense variant found in exon 2 of 14 is predicted to result in loss of normal protein function through either protein truncation or nonsense-mediated … (more)
This nonsense variant found in exon 2 of 14 is predicted to result in loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay (NMD). This variant has been previously reported as a heterozygous change in multiple individuals and families with arrhythmogenic right ventricular cardiomyopathy and was determined to be a Dutch founder mutation (PMID: 19955750, 15489853, 21301620, 30847666, 31386562, 21606396). Functional studies showed this variant leads to reduced PKP2 expression, poor localization to the cell membrane and altered desmosomal protein interactions (PMID: 19084810, 24704780). Loss-of-function variation in PKP2 is an established mechanism of disease (PMID: 19084810, 15489853). The c.235C>T (p.Arg79Ter) variant is present in the heterozygous state in the gnomAD population database at a frequency of 0.0003% (1/251328) and thus is presumed to be rare. Based on the available evidence, the c.235C>T (p.Arg79Ter) variant is classified as Pathogenic. (less)
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Pathogenic
(Nov 29, 2023)
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criteria provided, single submitter
Method: clinical testing
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Cardiomyopathy
Affected status: unknown
Allele origin:
germline
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Color Diagnostics, LLC DBA Color Health
Accession: SCV001357621.3
First in ClinVar: Jun 22, 2020 Last updated: Feb 14, 2024 |
Comment:
This variant changes 1 nucleotide in exon 2 of the PKP2 gene, creating a premature translation stop signal. This variant is expected to result in … (more)
This variant changes 1 nucleotide in exon 2 of the PKP2 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. Experimental studies have shown that the PKP2 protein expression was decreased by 50% in cells from a heterozygous carrier compared with wild type (PMID: 24704780). It has been shown that the mutant protein does not localize to sites of cell-cell contact and shows reduced ability to interact with connexin 43 protein (PMID: 19084810). This variant has been reported in multiple individuals affected with arrhythmogenic right ventricular cardiomyopathy (PMID: 15489853, 19955750, 21301620, 21606396, 24704780, 25765472, 31386562), and is thought to be a founder mutation in the Dutch population (PMID: 21301620). This variant has been identified in 1/251328 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of PKP2 function is a known mechanism of disease (clinicalgenome.org). Based on available evidence, this variant is classified as Pathogenic. (less)
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Pathogenic
(Jan 31, 2024)
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criteria provided, single submitter
Method: clinical testing
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Arrhythmogenic right ventricular dysplasia 9
Affected status: unknown
Allele origin:
germline
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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000288604.11
First in ClinVar: Jul 01, 2016 Last updated: Feb 14, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Arg79*) in the PKP2 gene. It is expected to result in an absent or disrupted protein … (more)
This sequence change creates a premature translational stop signal (p.Arg79*) in the PKP2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PKP2 are known to be pathogenic (PMID: 15489853, 17041889, 23911551). This variant is present in population databases (rs121434420, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with arrhythmogenic right ventricular cardiomyopathy (PMID: 15489853, 19955750, 21301620, 21606396). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 6754). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Aug 01, 2022)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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CeGaT Center for Human Genetics Tuebingen
Accession: SCV002497214.17
First in ClinVar: Apr 11, 2022 Last updated: Oct 08, 2024 |
Comment:
PKP2: PVS1, PM2, PS4:Supporting
Number of individuals with the variant: 3
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Pathogenic
(Nov 28, 2017)
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criteria provided, single submitter
Method: research
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Arrhythmogenic right ventricular dysplasia 9
Affected status: unknown
Allele origin:
unknown
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HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
Study: AGHI-WGS-HudsonAlpha
Accession: SCV000731253.1 First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018 |
Observation 1:
Number of individuals with the variant: 1
Observation 2:
Number of individuals with the variant: 1
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Pathogenic
(Feb 28, 2018)
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criteria provided, single submitter
Method: clinical testing
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Arrhythmia
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000918024.1
First in ClinVar: Jun 02, 2019 Last updated: Jun 02, 2019 |
Comment:
Variant summary: PKP2 c.235C>T (p.Arg79X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Variant summary: PKP2 c.235C>T (p.Arg79X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (eg. c.397C>T, p.Gln133X; c.1211dupT, p.Val406fsX4; c.1237C>T, p.Arg413X). The variant allele was found at a frequency of 4.1e-06 in 246126 control chromosomes. c.235C>T has been reported in the literature in multiple individuals affected with Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, including multiple affected individuals from several families, and was reported to be a Dutch founder mutation (Van der Zwaag_PKP2_NethHeartJ_2010). At least one publication reports experimental evidence evaluating an impact on protein function. This report showed the mutant protein failed to preferentially localize to sites of cell-cell apposition, resulted in reduced abundance of Cx43 after R79x expression and prevented its physical interaction with both DP and Cx43 (Joshi-Mukherjee_2008). Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(Nov 13, 2020)
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criteria provided, single submitter
Method: research
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Arrhythmogenic right ventricular dysplasia 9
Affected status: unknown
Allele origin:
paternal
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HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
Study: CSER-SouthSeq
Accession: SCV001468665.1 First in ClinVar: Jan 17, 2021 Last updated: Jan 17, 2021 |
Comment:
ACMG codes:PVS1, PS4, PS3, PM2, PP1S
Number of individuals with the variant: 1
Clinical Features:
Atrial septal defect (present) , Birth length less than 3rd percentile (present) , Corpus callosum, agenesis of (present) , Hydrocephalus (present) , Abnormality of brain … (more)
Atrial septal defect (present) , Birth length less than 3rd percentile (present) , Corpus callosum, agenesis of (present) , Hydrocephalus (present) , Abnormality of brain morphology (present) , Spina bifida (present) , Limb joint contracture (present) , Clubfoot (present) , Talipes calcaneovalgus (present) , Duplicated collecting system (present) , Tethered cord (present) (less)
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Pathogenic
(Oct 25, 2021)
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criteria provided, single submitter
Method: clinical testing
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Arrhythmogenic right ventricular dysplasia 9
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV002789328.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
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Pathogenic
(Nov 03, 2021)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: not provided
Allele origin:
germline
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Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
Accession: SCV002009819.3
First in ClinVar: Nov 06, 2021 Last updated: Jul 16, 2023 |
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Pathogenic
(Dec 17, 2021)
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criteria provided, single submitter
Method: clinical testing
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Cardiovascular phenotype
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV000318240.7
First in ClinVar: Oct 02, 2016 Last updated: May 01, 2024 |
Comment:
The p.R79* pathogenic mutation (also known as c.235C>T), located in coding exon 2 of the PKP2 gene, results from a C to T substitution at … (more)
The p.R79* pathogenic mutation (also known as c.235C>T), located in coding exon 2 of the PKP2 gene, results from a C to T substitution at nucleotide position 235. This changes the amino acid from an arginine to a stop codon within coding exon 2. This alteration has been described in numerous individuals and families with arrhythmogenic right ventricular cardiomyopathy (ARVC) and was determined to be a Dutch founder mutation associated with reduced penetrance and variable expressivity (van der Zwaag PA et al. Neth Heart J. 2010;18(12):583-91). Functional in vitro analysis demonstrated poor localization to the cell membrane and altered desmosomal protein interactions with reduced expression (Joshi-Mukherjee R et al. Heart Rhythm. 2008;5:1715-1723). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. (less)
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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Arrhythmogenic right ventricular dysplasia 9
Affected status: yes
Allele origin:
germline
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Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV000733170.1 First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018 |
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Pathogenic
(Nov 01, 2004)
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no assertion criteria provided
Method: literature only
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ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000027342.2
First in ClinVar: Apr 04, 2013 Last updated: Feb 03, 2020 |
Comment on evidence:
In 6 unrelated probands of western European descent, Gerull et al. (2004) found that arrhythmogenic right ventricular cardiomyopathy (ARVC9; 609040) was related to a heterozygous … (more)
In 6 unrelated probands of western European descent, Gerull et al. (2004) found that arrhythmogenic right ventricular cardiomyopathy (ARVC9; 609040) was related to a heterozygous 235C-T transition in exon 2 of the PKP2 gene, resulting in an arg79-to-stop (R79X) substitution. At least 1 of the individuals had a positive family history and 1 had left ventricular as well as right ventricular involvement. All were male. (less)
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Clinical Genetics, Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001919298.1 First in ClinVar: Sep 24, 2021 Last updated: Sep 24, 2021 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001955175.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
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Pathogenic
(Jul 29, 2014)
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no assertion criteria provided
Method: clinical testing
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Not provided
Affected status: not provided
Allele origin:
germline
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Stanford Center for Inherited Cardiovascular Disease, Stanford University
Accession: SCV000280413.1
First in ClinVar: May 29, 2016 Last updated: May 29, 2016 |
Comment:
Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case … (more)
Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease. p.Arg79Stop (c.235 C>T) in the PKP2 gene. This variant has been reported in at least 20 unrelated individuals with ARVC. The variant was first reported by Gerull et al (2004) in six unrelated individuals with ARVC. Van Tintelen et al (2006) then reported the variant in five unrelated individuals with ARVC. The same group later published 12 unrelated ARVC cases with the variant (including some of their original cases) (van der Zwaag et al 2010). Haplotype analysis supported a founder effect. The authors provide segregation data for 8 families with 2-3 affected individuals with the variant in each family. There were no individuals with definite or probable ARVC who did not have the variant. Christensen et al (2010) reported another patient with ARVC and this variant. Klauke et al (2010) reported the variant in an additional case. Recently Kapplinger et al (2011) reported this variant in 8 cases of ARVC, though some may overlap with previously reported cases. This variant creates a stop codon 79 residues into the PKP2 protein; it is predicted to either prevent protein production via nonsense mediated mRNA decay or to create a truncated protein. Joshi-Mukherjee et al (2008) studied the variant in neonatal rat ventricular myocytes in culture. They found that a truncated protein was expressed, which failed to localize appropriately and reduced expression of connexin-43 and loss of expression of HSP90. Gerull B et al (2004) did not find the variant in 250 presumably healthy controls of unspecified ethnicity. Klauke et (2010) report that they did not find the variant in 363 control individuals of unspecified race. Christensen et al (2010) did not see the variant in 650 controls. Kapplinger et al did not observe the variant in 427 control individuals. Thus in total this variant has not been observed in at least 1690 control individuals. (less)
Number of individuals with the variant: 10
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo. | van Lint FHM | Circulation. Genomic and precision medicine | 2019 | PMID: 31386562 |
Comprehensive analysis of desmosomal gene mutations in Han Chinese patients with arrhythmogenic right ventricular cardiomyopathy. | Zhou X | European journal of medical genetics | 2015 | PMID: 25765472 |
Truncating plakophilin-2 mutations in arrhythmogenic cardiomyopathy are associated with protein haploinsufficiency in both myocardium and epidermis. | Rasmussen TB | Circulation. Cardiovascular genetics | 2014 | PMID: 24704780 |
Mechanistic basis of desmosome-targeted diseases. | Al-Jassar C | Journal of molecular biology | 2013 | PMID: 23911551 |
Mutation-positive arrhythmogenic right ventricular dysplasia/cardiomyopathy: the triangle of dysplasia displaced. | Te Riele AS | Journal of cardiovascular electrophysiology | 2013 | PMID: 23889974 |
Exercise testing in asymptomatic gene carriers exposes a latent electrical substrate of arrhythmogenic right ventricular cardiomyopathy. | Perrin MJ | Journal of the American College of Cardiology | 2013 | PMID: 23810883 |
Remodeling of the cardiac sodium channel, connexin43, and plakoglobin at the intercalated disk in patients with arrhythmogenic cardiomyopathy. | Noorman M | Heart rhythm | 2013 | PMID: 23178689 |
Molecular autopsy in young sudden cardiac death victims with suspected cardiomyopathy. | Larsen MK | Forensic science international | 2012 | PMID: 22177269 |
Arrhythmogenic right ventricular dysplasia/cardiomyopathy: pathogenic desmosome mutations in index-patients predict outcome of family screening: Dutch arrhythmogenic right ventricular dysplasia/cardiomyopathy genotype-phenotype follow-up study. | Cox MG | Circulation | 2011 | PMID: 21606396 |
Recurrent and founder mutations in the Netherlands : Plakophilin-2 p.Arg79X mutation causing arrhythmogenic right ventricular cardiomyopathy/dysplasia. | van der Zwaag PA | Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation | 2010 | PMID: 21301620 |
De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy. | Klauke B | Human molecular genetics | 2010 | PMID: 20829228 |
Missense variants in plakophilin-2 in arrhythmogenic right ventricular cardiomyopathy patients--disease-causing or innocent bystanders? | Christensen AH | Cardiology | 2010 | PMID: 19955750 |
Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. | den Haan AD | Circulation. Cardiovascular genetics | 2009 | PMID: 20031617 |
Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study. | Bhuiyan ZA | Circulation. Cardiovascular genetics | 2009 | PMID: 20031616 |
Characterization of the molecular phenotype of two arrhythmogenic right ventricular cardiomyopathy (ARVC)-related plakophilin-2 (PKP2) mutations. | Joshi-Mukherjee R | Heart rhythm | 2008 | PMID: 19084810 |
Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2. | Awad MM | Human mutation | 2006 | PMID: 17041889 |
Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy. | van Tintelen JP | Circulation | 2006 | PMID: 16567567 |
Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2. | Dalal D | Circulation | 2006 | PMID: 16549640 |
Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. | Gerull B | Nature genetics | 2004 | PMID: 15489853 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=PKP2 | - | - | - | - |
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Text-mined citations for rs121434420 ...
HelpRecord last updated Oct 08, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.