ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6677G>A (p.Cys2226Tyr)

dbSNP: rs562492049
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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 RCV001044894 SCV001208716 uncertain significance not provided 2024-10-21 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 2226 of the USH2A protein (p.Cys2226Tyr). This variant is present in population databases (rs562492049, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 842468). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt USH2A protein function with a positive predictive value of 95%. 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.
Natera, Inc. RCV001836084 SCV002090876 uncertain significance Usher syndrome type 2A 2020-02-26 no assertion criteria provided clinical testing

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