ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8084A>G (p.Lys2695Arg)

gnomAD frequency: 0.00002  dbSNP: rs770631315
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001362592 SCV001558620 uncertain significance not provided 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 2695 of the USH2A protein (p.Lys2695Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. This variant is present in population databases (rs770631315, ExAC 0.01%). 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. RCV001826021 SCV002090836 uncertain significance Usher syndrome type 2A 2020-04-28 no assertion criteria provided clinical testing

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