ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9803G>A (p.Cys3268Tyr)

dbSNP: rs1662225145
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001071862 SCV001237192 uncertain significance not provided 2019-12-20 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. 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"). This variant has not been reported in the literature in individuals with USH2A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with tyrosine at codon 3268 of the USH2A protein (p.Cys3268Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine.
GeneDx RCV001071862 SCV004025653 uncertain significance not provided 2023-02-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV003455306 SCV004182660 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455305 SCV004182661 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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