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NM_206933.3(USH2A):c.1724G>A (p.Cys575Tyr)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 26, 2020
Accession:
VCV000552511.5
Variation ID:
552511
Description:
single nucleotide variant
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NM_206933.3(USH2A):c.1724G>A (p.Cys575Tyr)

Allele ID
540966
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q41
Genomic location
1: 216292291 (GRCh38) GRCh38 UCSC
1: 216465633 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_007123.5:c.1724G>A NP_009054.5:p.Cys575Tyr missense
NM_206933.3:c.1724G>A NP_996816.2:p.Cys575Tyr missense
NC_000001.10:g.216465633C>T
... more HGVS
Protein change
C575Y
Other names
-
Canonical SPDI
NC_000001.11:216292290:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00000
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
dbSNP: rs483353054
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Jun 14, 2017 RCV000667787.1
Pathogenic 1 criteria provided, single submitter Aug 26, 2020 RCV001067227.2
Pathogenic 1 criteria provided, single submitter Jun 26, 2018 RCV001073924.1
Pathogenic 1 no assertion criteria provided Sep 16, 2020 RCV001271239.1
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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
3428 4027

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jun 14, 2017)
criteria provided, single submitter
Method: clinical testing
Usher syndrome, type 2A
Retinitis pigmentosa 39
Allele origin: unknown
Counsyl
Accession: SCV000792291.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (3)
Pathogenic
(Jun 26, 2018)
criteria provided, single submitter
Method: clinical testing
Retinal dystrophy
Allele origin: germline
Blueprint Genetics
Accession: SCV001239489.1
Submitted: (Oct 15, 2019)
Comment:
My Retina Tracker patient
Evidence details
Pathogenic
(Aug 26, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001232274.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change replaces cysteine with tyrosine at codon 575 of the USH2A protein (p.Cys575Tyr). The cysteine residue is highly conserved and there is a … (more)
Pathogenic
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Usher syndrome type 2A
Allele origin: germline
Natera, Inc.
Accession: SCV001452256.1
Submitted: (Dec 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
Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients. Sengillo JD Scientific reports 2017 PMID: 28894305
Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing. de Castro-Miró M PloS one 2016 PMID: 28005958
Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography. Zein WM Investigative ophthalmology & visual science 2014 PMID: 25425308
Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots. Baux D Human mutation 2014 PMID: 24944099
A genetic basis for mechanosensory traits in humans. Frenzel H PLoS biology 2012 PMID: 22563300
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. Bonnet C Orphanet journal of rare diseases 2011 PMID: 21569298
Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa. Seyedahmadi BJ Experimental eye research 2004 PMID: 15325563

Text-mined citations for rs483353054...

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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 Oct 08, 2021