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NM_206933.4(USH2A):c.908G>A (p.Arg303His)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
8 (Most recent: Aug 3, 2021)
Last evaluated:
Jul 1, 2021
Accession:
VCV000284411.14
Variation ID:
284411
Description:
single nucleotide variant
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NM_206933.4(USH2A):c.908G>A (p.Arg303His)

Allele ID
268648
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q41
Genomic location
1: 216325540 (GRCh38) GRCh38 UCSC
1: 216498882 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.11:g.216325540C>T
NG_009497.1:g.102857G>A
NG_009497.2:g.102909G>A
... more HGVS
Protein change
R303H
Other names
-
Canonical SPDI
NC_000001.11:216325539:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00004
Exome Aggregation Consortium (ExAC) 0.00005
The Genome Aggregation Database (gnomAD) 0.00006
Trans-Omics for Precision Medicine (TOPMed) 0.00006
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
ClinGen: CA1396646
dbSNP: rs371777049
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 4 criteria provided, multiple submitters, no conflicts Jul 1, 2021 RCV000276147.8
Pathogenic 1 criteria provided, single submitter Jul 2, 2019 RCV001074790.1
Likely pathogenic 1 no assertion criteria provided Apr 12, 2017 RCV000666542.1
Pathogenic/Likely pathogenic 2 no assertion criteria provided Oct 8, 2018 RCV000754554.2
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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
3452 4058

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Dec 01, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000337027.4
Submitted: (Sep 19, 2018)
Evidence details
Publications
PubMed (4)
Other databases
http://www.egl-eurofins.com/emvc…
Pathogenic
(Jul 02, 2019)
criteria provided, single submitter
Method: clinical testing
Retinal dystrophy
Allele origin: germline
Blueprint Genetics
Accession: SCV001240386.1
Submitted: (Oct 15, 2019)
Comment:
My Retina Tracker patient
Evidence details
Pathogenic
(Oct 20, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001224324.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change replaces arginine with histidine at codon 303 of the USH2A protein (p.Arg303His). The arginine residue is highly conserved and there is a … (more)
Pathogenic
(Oct 30, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001766817.1
Submitted: (Aug 03, 2021)
Evidence details
Comment:
Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports … (more)
Pathogenic
(Jul 01, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001250065.6
Submitted: (Jul 04, 2021)
Evidence details
Pathogenic
(Oct 08, 2018)
no assertion criteria provided
Method: research
Hearing impairment
Allele origin: germline
Center for Statistical Genetics, Columbia University
Accession: SCV000853292.1
Submitted: (Nov 22, 2018)
Evidence details
Likely pathogenic
(Apr 12, 2017)
no assertion criteria provided
Method: clinical testing
Retinitis pigmentosa 39
Allele origin: unknown
Counsyl
Accession: SCV000790848.2
Submitted: (Aug 05, 2019)
Evidence details
Publications
PubMed (5)
Likely pathogenic
(-)
no assertion criteria provided
Method: research
Hearing impairment
Allele origin: inherited
University of Washington Center for Mendelian Genomics, University of Washington
Accession: SCV001439132.1
Submitted: (Feb 28, 2020)
Evidence details

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
Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma. Schrauwen I European journal of human genetics : EJHG 2019 PMID: 30872814
Unravelling the genetic basis of simplex Retinitis Pigmentosa cases. Bravo-Gil N Scientific reports 2017 PMID: 28157192
Contribution of mutation load to the intrafamilial genetic heterogeneity in a large cohort of Spanish retinal dystrophies families. Sánchez-Alcudia R Investigative ophthalmology & visual science 2014 PMID: 25342620
Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots. Baux D Human mutation 2014 PMID: 24944099
Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations. Garcia-Garcia G Orphanet journal of rare diseases 2011 PMID: 22004887
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. Bonnet C Orphanet journal of rare diseases 2011 PMID: 21569298
Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II. Yan D Journal of human genetics 2009 PMID: 19881469
Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments. Aller E European journal of human genetics : EJHG 2004 PMID: 14970843
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=USH2A - - - -

Text-mined citations for rs371777049...

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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 20, 2021