ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr)

dbSNP: rs483353054
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667787 SCV000792291 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2017-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001067227 SCV001232274 pathogenic not provided 2023-12-09 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 575 of the USH2A protein (p.Cys575Tyr). This variant is present in population databases (rs483353054, gnomAD 0.003%). This missense change has been observed in individuals with Usher syndrome (PMID: 21569298, 24944099, 25425308, 28894305). ClinVar contains an entry for this variant (Variation ID: 552511). 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%. This variant disrupts the p.Cys575 amino acid residue in USH2A. Other variant(s) that disrupt this residue have been observed in individuals with USH2A-related conditions (PMID: 15325563), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001073924 SCV001239489 pathogenic Retinal dystrophy 2018-06-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000667787 SCV002809689 pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2021-08-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451662 SCV004182501 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001271239 SCV004182502 likely pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003451662 SCV004207705 pathogenic Retinitis pigmentosa 39 2024-02-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271239 SCV001452256 pathogenic Usher syndrome type 2A 2020-09-16 no assertion criteria provided clinical testing

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