ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12986A>G (p.Tyr4329Cys)

gnomAD frequency: 0.00001  dbSNP: rs371401837
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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 RCV001371966 SCV001568552 uncertain significance not provided 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 4329 of the USH2A protein (p.Tyr4329Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is not present in population databases (ExAC no frequency). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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. RCV001831309 SCV002088283 uncertain significance Usher syndrome type 2A 2020-03-18 no assertion criteria provided clinical testing

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