ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7157T>C (p.Val2386Ala)

gnomAD frequency: 0.00002  dbSNP: rs750076512
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001308295 SCV001497738 uncertain significance not provided 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 2386 of the USH2A protein (p.Val2386Ala). This variant is present in population databases (rs750076512, gnomAD 0.008%). 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: 1010639). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.

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