ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14680G>A (p.Ala4894Thr)

gnomAD frequency: 0.00011  dbSNP: rs369778428
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001222495 SCV001394595 uncertain significance not provided 2022-08-08 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 4894 of the USH2A protein (p.Ala4894Thr). This variant is present in population databases (rs369778428, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 950722). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine 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. RCV001833928 SCV002088212 uncertain significance Usher syndrome type 2A 2020-01-17 no assertion criteria provided clinical testing

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