ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7952A>G (p.Asn2651Ser)

gnomAD frequency: 0.00001  dbSNP: rs745559540
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001209563 SCV001381003 uncertain significance not provided 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 2651 of the USH2A protein (p.Asn2651Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs745559540, ExAC 0.02%). 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. RCV001828681 SCV002090837 uncertain significance Usher syndrome type 2A 2020-10-07 no assertion criteria provided clinical testing

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