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NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) AND Arrhythmogenic right ventricular dysplasia 8

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Jan 31, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000735747.5

Allele description [Variation Report for NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)]

NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)

Gene:
DSP:desmoplakin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p24.3
Genomic location:
Preferred name:
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)
Other names:
p.A566T:GCC>ACC
HGVS:
  • NC_000006.12:g.7570558G>A
  • NG_008803.1:g.33922G>A
  • NM_001008844.3:c.1696G>A
  • NM_001319034.2:c.1696G>A
  • NM_004415.4:c.1696G>AMANE SELECT
  • NP_001008844.1:p.Ala566Thr
  • NP_001305963.1:p.Ala566Thr
  • NP_004406.2:p.Ala566Thr
  • LRG_423t1:c.1696G>A
  • LRG_423:g.33922G>A
  • NC_000006.11:g.7570791G>A
  • NM_001008844.1:c.1696G>A
  • NM_004415.2:c.1696G>A
  • NM_004415.3:c.1696G>A
Protein change:
A566T
Links:
dbSNP: rs148147581
NCBI 1000 Genomes Browser:
rs148147581
Molecular consequence:
  • NM_001008844.3:c.1696G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001319034.2:c.1696G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004415.4:c.1696G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Arrhythmogenic right ventricular dysplasia 8 (ARVD8)
Synonyms:
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; Arrhythmogenic right ventricular cardiomyopathy, type 8; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8
Identifiers:
MONDO: MONDO:0011831; MedGen: C1843896; OMIM: 607450

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000464899Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Likely benign
(Jan 31, 2019) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV000863904Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
no assertion criteria provided
Uncertain significance
(Jun 18, 2018) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

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, van der Zwaag PA, van der Werf C, van der Smagt JJ, Noorman M, Bhuiyan ZA, Wiesfeld AC, Volders PG, van Langen IM, Atsma DE, Dooijes D, van den Wijngaard A, Houweling AC, Jongbloed JD, Jordaens L, Cramer MJ, Doevendans PA, de Bakker JM, Wilde AA, van Tintelen JP, Hauer RN.

Circulation. 2011 Jun 14;123(23):2690-700. doi: 10.1161/CIRCULATIONAHA.110.988287. Epub 2011 May 23.

PubMed [citation]
PMID:
21606396

Ultrastructural evidence of intercalated disc remodelling in arrhythmogenic right ventricular cardiomyopathy: an electron microscopy investigation on endomyocardial biopsies.

Basso C, Czarnowska E, Della Barbera M, Bauce B, Beffagna G, Wlodarska EK, Pilichou K, Ramondo A, Lorenzon A, Wozniek O, Corrado D, Daliento L, Danieli GA, Valente M, Nava A, Thiene G, Rampazzo A.

Eur Heart J. 2006 Aug;27(15):1847-54. Epub 2006 Jun 14.

PubMed [citation]
PMID:
16774985

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000464899.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare, SCV000863904.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 2, 2024