ClinVar Genomic variation as it relates to human health
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)
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.
Pathogenic(12); Likely pathogenic(3); Uncertain significance(4)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)
Variation ID: 143179 Accession: VCV000143179.62
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 1q41 1: 216246592 (GRCh38) [ NCBI UCSC ] 1: 216419934 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
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 Aug 10, 2014 Aug 4, 2024 Mar 27, 2024 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_206933.4:c.2802T>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_996816.3:p.Cys934Trp missense NM_007123.6:c.2802T>G NP_009054.6:p.Cys934Trp missense NC_000001.11:g.216246592A>C NC_000001.10:g.216419934A>C NG_009497.2:g.181857T>G NG_076570.2:g.210A>C O75445:p.Cys934Trp - Protein change
- C934W
- Other names
- -
- Canonical SPDI
- NC_000001.11:216246591:A:C
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
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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0.00080 (C)
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD) 0.00006
Trans-Omics for Precision Medicine (TOPMed) 0.00014
Exome Aggregation Consortium (ExAC) 0.00021
The Genome Aggregation Database (gnomAD), exomes 0.00021
1000 Genomes Project 0.00080
1000 Genomes Project 30x 0.00094
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
Help
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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LOC122152296 | - | - | - | GRCh38 | - | 210 |
USH2A | - | - |
GRCh38 GRCh37 |
7040 | 8526 |
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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Uncertain significance (3) |
criteria provided, single submitter
|
Apr 27, 2017 | RCV000132710.8 | |
Conflicting interpretations of pathogenicity (5) |
criteria provided, conflicting classifications
|
Mar 27, 2024 | RCV000576637.11 | |
Pathogenic (4) |
criteria provided, multiple submitters, no conflicts
|
Jan 28, 2024 | RCV000595137.35 | |
Conflicting interpretations of pathogenicity (9) |
criteria provided, conflicting classifications
|
Jan 3, 2022 | RCV000986542.17 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Oct 1, 2023 | RCV001074347.4 | |
Likely pathogenic (1) |
no assertion criteria provided
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Jun 23, 2019 | RCV001003277.2 | |
Pathogenic (1) |
criteria provided, single submitter
|
Nov 21, 2022 | RCV002469023.2 |
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
(-)
|
criteria provided, single submitter
Method: clinical testing
|
Usher syndrome type 2A
Affected status: unknown
Allele origin:
germline
|
Baylor Genetics
Accession: SCV001162880.1
First in ClinVar: Feb 28, 2020 Last updated: Feb 28, 2020 |
|
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Likely pathogenic
(Dec 20, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Usher syndrome type 2A
Affected status: unknown
Allele origin:
unknown
|
Myriad Genetics, Inc.
Accession: SCV001193894.1
First in ClinVar: Apr 06, 2020 Last updated: Apr 06, 2020 |
Comment:
NM_206933.2(USH2A):c.2802T>G(C934W) is classified as likely pathogenic in the context of USH2A-related disorders. Sources cited for classification include the following: PMID 24938718, 25324289, 26310143, 27460420 and … (more)
NM_206933.2(USH2A):c.2802T>G(C934W) is classified as likely pathogenic in the context of USH2A-related disorders. Sources cited for classification include the following: PMID 24938718, 25324289, 26310143, 27460420 and 26338283. Classification of NM_206933.2(USH2A):c.2802T>G(C934W) is based on the following criteria: This variant has been observed more frequently in patients with clinical diagnoses than in healthy populations. Please note: this variant was assessed in the context of healthy population screening. (less)
|
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Pathogenic
(Nov 21, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Usher syndrome
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV002766563.1
First in ClinVar: Dec 24, 2022 Last updated: Dec 24, 2022 |
Comment:
Variant summary: USH2A c.2802T>G (p.Cys934Trp) results in a non-conservative amino acid change located in the Laminin-type EGF domain (IPR002049) of the encoded protein sequence. Five … (more)
Variant summary: USH2A c.2802T>G (p.Cys934Trp) results in a non-conservative amino acid change located in the Laminin-type EGF domain (IPR002049) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00021 in 251078 control chromosomes (gnomAD). This frequency is not significantly higher than expected for a pathogenic variant in USH2A causing Usher Syndrome (0.00021 vs 0.011), allowing no conclusion about variant significance. c.2802T>G has been reported in the literature as a biallelic genotype in multiple individuals affected with retinitis pigmentosa and Usher syndrome (e.g. Oishi_2014, Zheng_2015, Koyanagi_2019). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Fifteen ClinVar submitters have assessed the variant since 2014: three classified the variant as uncertain significance, five classified the variant as likely pathogenic, and seven classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(May 06, 2021)
|
criteria provided, single submitter
Method: clinical testing
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Usher syndrome type 2A
(Autosomal recessive inheritance)
Affected status: unknown
Allele origin:
germline
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
Additional submitter:
Shariant Australia, Australian Genomics
Accession: SCV002768376.1
First in ClinVar: Dec 24, 2022 Last updated: Dec 24, 2022 |
Comment:
Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism … (more)
Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with retinitis pigmentosa 39 (MIM#6138093) and type 2A Usher syndrome (MIM#276901). (I) 0106 - This gene is associated with autosomal recessive disease. (I) 0200 - Variant is predicted to result in a missense amino acid change from cysteine to tryptophan. (I) 0251 - This variant is heterozygous. (I) 0304 - Variant is present in gnomAD <0.01 for a recessive condition (v2: 57 heterozygotes, 0 homozygotes). (SP) 0309 - An alternative amino acid change at the same position has been observed in gnomAD (v2: 2 heterozygotes, 0 homozygotes). (I) 0501 - Missense variant consistently predicted to be damaging by multiple in silico tools or highly conserved with a major amino acid change. (SP) 0600 - Variant is located in the annotated laminin EGF domain (Decipher). (I) 0801 - This variant has strong previous evidence of pathogenicity in multiple unrelated individuals with retinitis pigmentosa and Usher syndrome (ClinVar, PMID: 32893482). (SP) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign (less)
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Pathogenic
(Nov 18, 2021)
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criteria provided, single submitter
Method: research
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Retinitis pigmentosa 39
(Autosomal recessive inheritance)
Affected status: yes, no
Allele origin:
unknown
|
Pangenia Genomics, Pangenia Inc.
Accession: SCV003922396.1
First in ClinVar: May 13, 2023 Last updated: May 13, 2023 |
Comment:
The USH2A, c.2802T>G (p.Cys934Trp) variant is at extremely low frequency in population database; allele frequency in East Asia population is 0. 0025 by gnomAD v2.1.1. … (more)
The USH2A, c.2802T>G (p.Cys934Trp) variant is at extremely low frequency in population database; allele frequency in East Asia population is 0. 0025 by gnomAD v2.1.1. This variant is detected in trans with a pathogenic variant [USH2A, c.9570+1G>A] . This variant has been previously reported to be detected in numerous patients affected by retinitis pigmentosa or Usher syndrome as homozygote [PMID: 26338283], or in combination with another null variant in USH2A gene [PMID: 24938718, 25649381, 30948794, 33105608, 26338283], including frameshift and canonical splice sites variants (c.8368delT, c.8730dupT, c.9570+1G>A, c.99_100insT, c.5858-1G>A, c.5158delC, c.11811_11812delCT, c.12409delA, c.710delT). In at least 3 patients, the other null variant was confirmed to be in trans with this variant [PMID: 24938718, 30948794]. Multiple lines of computational evidence support a deleterious effect on the gene or gene product, REVEL = 0.849. This variant has been reported to co-segregate with retinitis pigmentosa or Usher syndrome in several families [PMID: 24938718, 26310143, 21686329].There are multiple submissions of this variant in ClinVar (Variation ID: 143179). (less)
Observation 1:
Ethnicity/Population group: Asian
Observation 2:
Ethnicity/Population group: Asian
|
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Pathogenic
(Jun 06, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV001874778.5
First in ClinVar: Sep 19, 2021 Last updated: Jun 17, 2023 |
Comment:
In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26992781, … (more)
In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26992781, 29899460, 34416374, 33629268, 32531858, 31904091, 31045651, 31054281, 25262649, 25356976, 25474345, 26310143, 21686329, 24938718, 25324289, 27460420, 25649381, 25078356, 26338283, 28041643, 28704127, 29625443, 30487145, 29074561, 32100970, 31960602, 31213501, 32188678, 31872526, 30948794, 31456290, 32203226, 30896630, 32581362, 32893482, 33090715, 33105608, 34426522, 33124170, 32675063, 33781268, 33946315, 33691693, 32037395, 35314707, 34721897, 35266249, 35052368) (less)
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Uncertain significance
(-)
|
criteria provided, single submitter
Method: clinical testing
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Usher syndrome type 2A
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
|
Neuberg Centre For Genomic Medicine, NCGM
Accession: SCV004100405.1
First in ClinVar: Nov 04, 2023 Last updated: Nov 04, 2023 |
Comment:
The missense variant p.C934W in USH2A (NM_206933.4) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The … (more)
The missense variant p.C934W in USH2A (NM_206933.4) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.C934W variant is observed in 46/18,376 (0.2503%) alleles from individuals of East Asian background in gnomAD Exomes and in 4/1,008 (0.3968%) alleles from individuals of East Asian background in 1000 Genomes. This variant was found in ClinVar (Variant 143179) with a classification of Conflicting Interpretations Of Pathogenicity and a review status of (1 star) criteria provided, conflicting interpretations. There is a large physicochemical difference between cysteine and tryptophan, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. For these reasons, this variant has been classified as Uncertain Significance. A different heterozygous variant in the USH2A gene has been detected in the spouse (less)
Clinical Features:
Past obstetric history (present)
|
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Pathogenic
(Jan 28, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000963084.6
First in ClinVar: Aug 14, 2019 Last updated: Feb 14, 2024 |
Comment:
This sequence change replaces cysteine, which is neutral and slightly polar, with tryptophan, which is neutral and slightly polar, at codon 934 of the USH2A … (more)
This sequence change replaces cysteine, which is neutral and slightly polar, with tryptophan, which is neutral and slightly polar, at codon 934 of the USH2A protein (p.Cys934Trp). This variant is present in population databases (rs201527662, gnomAD 0.2%). This missense change has been observed in individual(s) with Usher syndrome (PMID: 25356976, 26338283, 27160483, 27460420, 29625443, 29899460, 30948794). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 143179). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt USH2A protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Oct 01, 2023)
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criteria provided, single submitter
Method: research
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Retinal dystrophy
Affected status: yes
Allele origin:
germline
|
Dept Of Ophthalmology, Nagoya University
Accession: SCV004708027.1
First in ClinVar: Mar 10, 2024 Last updated: Mar 10, 2024 |
|
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Pathogenic
(Mar 27, 2024)
|
criteria provided, single submitter
Method: clinical testing
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Retinitis pigmentosa 39
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV004207714.2
First in ClinVar: Dec 30, 2023 Last updated: Jun 17, 2024 |
|
|
Pathogenic
(Dec 01, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
CeGaT Center for Human Genetics Tuebingen
Accession: SCV001248856.24
First in ClinVar: May 09, 2020 Last updated: Aug 04, 2024 |
Number of individuals with the variant: 1
|
|
Pathogenic
(Jan 19, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Eurofins Ntd Llc (ga)
Accession: SCV000703881.2
First in ClinVar: Apr 02, 2018 Last updated: Apr 02, 2018 |
Number of individuals with the variant: 1
Sex: mixed
|
|
Pathogenic
(May 28, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Usher syndrome type 2A
Affected status: unknown
Allele origin:
unknown
|
Mendelics
Accession: SCV001135560.1
First in ClinVar: Jan 09, 2020 Last updated: Jan 09, 2020 |
|
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Pathogenic
(Jul 16, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Retinal dystrophy
Affected status: yes
Allele origin:
germline
|
Blueprint Genetics
Accession: SCV001239922.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020
Comment:
My Retina Tracker patient
|
|
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Uncertain significance
(Apr 27, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Retinitis pigmentosa
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV001255333.1
First in ClinVar: May 31, 2020 Last updated: May 31, 2020 |
Comment:
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, … (more)
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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. (less)
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Uncertain significance
(Apr 27, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Usher syndrome type 2A
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV001255332.1
First in ClinVar: May 31, 2020 Last updated: May 31, 2020 |
Comment:
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, … (more)
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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. (less)
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Likely pathogenic
(Jul 22, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Usher syndrome type 2A
Affected status: no
Allele origin:
germline
|
Genome-Nilou Lab
Accession: SCV001821754.1
First in ClinVar: Sep 08, 2021 Last updated: Sep 08, 2021 |
Sex: mixed
|
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Uncertain significance
(Jul 22, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Retinitis pigmentosa 39
Affected status: no
Allele origin:
germline
|
Genome-Nilou Lab
Accession: SCV001821765.1
First in ClinVar: Sep 08, 2021 Last updated: Sep 08, 2021 |
Sex: mixed
|
|
Likely pathogenic
(Jan 03, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Usher syndrome type 2A
Affected status: yes
Allele origin:
germline
|
3billion
Accession: SCV002059202.1
First in ClinVar: Jan 08, 2022 Last updated: Jan 08, 2022 |
Comment:
Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000143179, PMID:21686329, PS1_S).It is … (more)
Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000143179, PMID:21686329, PS1_S).It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000202, PM2_M). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.849, PP3_P). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline. (less)
Clinical Features:
Hearing impairment (present)
|
|
pathogenic
(-)
|
no assertion criteria provided
Method: not provided
|
Retinitis pigmentosa
Affected status: not provided
Allele origin:
not provided
|
Department of Ophthalmology and Visual Sciences Kyoto University
Accession: SCV000172663.1
First in ClinVar: Aug 10, 2014 Last updated: Aug 10, 2014 |
Comment:
Converted during submission to Pathogenic.
|
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Uncertain significance
(Jan 01, 2015)
|
no assertion criteria provided
Method: research
|
Retinitis pigmentosa
Affected status: yes
Allele origin:
unknown
|
NIHR Bioresource Rare Diseases, University of Cambridge
Accession: SCV000598803.2
First in ClinVar: Aug 10, 2014 Last updated: Sep 21, 2018 |
Observation 1:
Number of individuals with the variant: 1
Sex: female
Ethnicity/Population group: East Asian
Observation 2:
Number of individuals with the variant: 1
Sex: female
Ethnicity/Population group: East Asian
|
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Likely pathogenic
(Jan 13, 2017)
|
no assertion criteria provided
Method: clinical testing
|
Retinitis pigmentosa 39
Affected status: unknown
Allele origin:
unknown
|
Counsyl
Accession: SCV000678095.2
First in ClinVar: Jan 07, 2018 Last updated: Jan 07, 2018 |
|
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Pathogenic
(Sep 16, 2020)
|
no assertion criteria provided
Method: clinical testing
|
Usher syndrome type 2A
Affected status: unknown
Allele origin:
germline
|
Natera, Inc.
Accession: SCV001452245.1
First in ClinVar: Jan 02, 2021 Last updated: Jan 02, 2021 |
|
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Pathogenic
(Apr 17, 2023)
|
no assertion criteria provided
Method: literature only
|
RETINITIS PIGMENTOSA 39
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV003841031.2
First in ClinVar: Mar 18, 2023 Last updated: Apr 23, 2023 |
Comment on evidence:
In 5 Korean probands with retinitis pigmentosa (RP39; 613809), Jung et al. (2023) identified compound heterozygosity for a c.2802T-G transversion in exon 13 of the … (more)
In 5 Korean probands with retinitis pigmentosa (RP39; 613809), Jung et al. (2023) identified compound heterozygosity for a c.2802T-G transversion in exon 13 of the USH2A gene, resulting in a cys934-to-trp (C934W) substitution within the LamE 8 domain, and another missense or truncating mutation in the USH2A gene (e.g., 608400.0017 and 608400.0018). Hearing tests were not performed, but no hearing problems were reported by any of the probands. (less)
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Likely pathogenic
(Jun 23, 2019)
|
no assertion criteria provided
Method: research
|
Usher syndrome type 2
Affected status: yes
Allele origin:
inherited
|
Sharon lab, Hadassah-Hebrew University Medical Center
Accession: SCV001161360.1
First in ClinVar: Feb 16, 2020 Last updated: Feb 16, 2020 |
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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 |
---|---|---|---|---|
Exome sequencing identified five novel USH2A variants in Korean patients with retinitis pigmentosa. | Jung S | Ophthalmic genetics | 2023 | PMID: 36314366 |
Multimodal imaging and genetic characteristics of Chinese patients with USH2A-associated nonsyndromic retinitis pigmentosa. | Chen C | Molecular genetics & genomic medicine | 2020 | PMID: 32893482 |
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients. | Koyanagi Y | Journal of medical genetics | 2019 | PMID: 31213501 |
Whole exome sequencing identifies novel USH2A mutations and confirms Usher syndrome 2 diagnosis in Chinese retinitis pigmentosa patients. | Ng TK | Scientific reports | 2019 | PMID: 30948794 |
Mutation screening of the USH2A gene in retinitis pigmentosa and USHER patients in a Han Chinese population. | Huang L | Eye (London, England) | 2018 | PMID: 29899460 |
Comprehensive Molecular Screening in Chinese Usher Syndrome Patients. | Sun T | Investigative ophthalmology & visual science | 2018 | PMID: 29625443 |
Advanced diagnostic genetic testing in inherited retinal disease: experience from a single tertiary referral centre in the UK National Health Service. | Khan KN | Clinical genetics | 2017 | PMID: 27160483 |
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. | Bonnet C | European journal of human genetics : EJHG | 2016 | PMID: 27460420 |
Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. | Jiang L | Orphanet journal of rare diseases | 2015 | PMID: 26338283 |
Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family. | Zheng SL | International journal of molecular medicine | 2015 | PMID: 26310143 |
Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing. | Huang XF | Genetics in medicine : official journal of the American College of Medical Genetics | 2015 | PMID: 25356976 |
Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing. | Oishi M | Investigative ophthalmology & visual science | 2014 | PMID: 25324289 |
Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing. | Xu Y | Human genetics | 2014 | PMID: 24938718 |
Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II. | Xu W | Molecular vision | 2011 | PMID: 21686329 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=USH2A | - | - | - | - |
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Text-mined citations for rs201527662 ...
HelpRecord last updated Aug 18, 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.