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NM_206933.4(USH2A):c.13576C>T (p.Arg4526Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Jan 7, 2021)
Last evaluated:
Jun 24, 2020
Accession:
VCV000438014.7
Variation ID:
438014
Description:
single nucleotide variant
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NM_206933.4(USH2A):c.13576C>T (p.Arg4526Ter)

Allele ID
431574
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q41
Genomic location
1: 215674335 (GRCh38) GRCh38 UCSC
1: 215847677 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.215847677G>A
NC_000001.11:g.215674335G>A
NG_009497.1:g.754062C>T
... more HGVS
Protein change
R4526*
Other names
-
Canonical SPDI
NC_000001.11:215674334:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA37412317
dbSNP: rs1003869920
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, multiple submitters, no conflicts Jun 24, 2020 RCV000598833.4
Pathogenic 1 criteria provided, single submitter Jun 18, 2019 RCV001074297.1
Pathogenic 2 no assertion criteria provided Apr 1, 2018 RCV000504721.2
Pathogenic 1 no assertion criteria provided Nov 10, 2017 RCV000670712.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
USH2A - - GRCh38
GRCh37
3406 4061

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Aug 29, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000709890.2
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The R4526X variant has been reported previously in association with Usher syndrome (Nakanishi et al., 2011). This variant is predicted to cause loss of normal … (more)
Pathogenic
(Jun 18, 2019)
criteria provided, single submitter
Method: clinical testing
Retinal dystrophy
Allele origin: germline
Blueprint Genetics
Accession: SCV001239870.1
Submitted: (Oct 15, 2019)
Comment:
My Retina Tracker patient
Evidence details
Pathogenic
(Jun 24, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001222765.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (6)
Comment:
This sequence change creates a premature translational stop signal (p.Arg4526*) in the USH2A gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Jan 01, 2015)
no assertion criteria provided
Method: research
Retinitis pigmentosa
Allele origin: unknown
NIHR Bioresource Rare Diseases, University of Cambridge
Accession: SCV000598789.1
Submitted: (Aug 18, 2017)
Evidence details
Publications
PubMed (2)
Pathogenic
(Apr 01, 2018)
no assertion criteria provided
Method: research
Retinitis pigmentosa
Allele origin: unknown
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet
Study: VeluxRD
Accession: SCV000926722.1
Submitted: (Dec 05, 2018)
Evidence details
Publications
PubMed (1)
Pathogenic
(Nov 10, 2017)
no assertion criteria provided
Method: clinical testing
Retinitis pigmentosa 39
Allele origin: unknown
Counsyl
Accession: SCV000795603.2
Submitted: (Aug 05, 2019)
Evidence details
Publications
PubMed (3)

Functional evidence

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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 this variant

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Title Author Journal Year Link
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. Jespersgaard C Scientific reports 2019 PMID: 30718709
Unravelling the genetic basis of simplex Retinitis Pigmentosa cases. Bravo-Gil N Scientific reports 2017 PMID: 28157192
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. Carss KJ American journal of human genetics 2017 PMID: 28041643
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants. Lenassi E European journal of human genetics : EJHG 2015 PMID: 25649381
Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations. Nakanishi H Journal of human genetics 2011 PMID: 21593743
Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa. McGee TL Journal of medical genetics 2010 PMID: 20507924
Identification of novel USH2A mutations: implications for the structure of USH2A protein. Dreyer B European journal of human genetics : EJHG 2000 PMID: 10909849
Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. Weston MD American journal of human genetics 2000 PMID: 10729113

Text-mined citations for rs1003869920...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021