ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.3095G>A (p.Cys1032Tyr)

dbSNP: rs762711963
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001296512 SCV001485478 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 1032 of the USH2A protein (p.Cys1032Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with USH2A-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. RCV001830137 SCV002093939 uncertain significance Usher syndrome type 2A 2020-01-07 no assertion criteria provided clinical testing

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