ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.2857T>C (p.Cys953Arg)

dbSNP: rs762059922
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001313133 SCV001503612 uncertain significance not provided 2022-11-29 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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. ClinVar contains an entry for this variant (Variation ID: 1014404). This missense change has been observed in individual(s) with clinical features of USH2A-related conditions (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 953 of the USH2A protein (p.Cys953Arg).
Natera, Inc. RCV001835535 SCV002093943 uncertain significance Usher syndrome type 2A 2020-02-26 no assertion criteria provided clinical testing

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