ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.800T>C (p.Val267Ala)

gnomAD frequency: 0.00001  dbSNP: rs1047582820
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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 RCV001242990 SCV001416118 uncertain significance not provided 2022-01-12 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 267 of the USH2A protein (p.Val267Ala). This variant is present in population databases (no rsID available, 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: 967956). 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 disruptive. 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. RCV001835150 SCV002094015 uncertain significance Usher syndrome type 2A 2020-08-25 no assertion criteria provided clinical testing

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