ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14140G>T (p.Ala4714Ser)

gnomAD frequency: 0.00001  dbSNP: rs765164422
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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 RCV001237824 SCV001410604 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces alanine with serine at codon 4714 of the USH2A protein (p.Ala4714Ser). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and serine. This variant is present in population databases (rs765164422, ExAC 0.003%). 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 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.
Fulgent Genetics, Fulgent Genetics RCV005014288 SCV005645719 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2024-02-23 criteria provided, single submitter clinical testing

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