ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9875A>G (p.Gln3292Arg)

gnomAD frequency: 0.00001  dbSNP: rs1243226250
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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 RCV001045350 SCV001209194 uncertain significance not provided 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 3292 of the USH2A protein (p.Gln3292Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine. 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. RCV001827281 SCV002088380 uncertain significance Usher syndrome type 2A 2021-03-02 no assertion criteria provided clinical testing

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