ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.2621T>A (p.Val874Glu)

dbSNP: rs2036055708
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001063535 SCV001228384 uncertain significance not provided 2022-02-04 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 874 of the USH2A protein (p.Val874Glu). This variant is not present in population databases (gnomAD no frequency). 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: 857792). 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. RCV001827407 SCV002093949 uncertain significance Usher syndrome type 2A 2021-08-11 no assertion criteria provided clinical testing

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