ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.15563G>C (p.Ser5188Thr)

dbSNP: rs779531682
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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 RCV001350463 SCV001544863 uncertain significance not provided 2022-05-16 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 5188 of the USH2A protein (p.Ser5188Thr). This variant is present in population databases (rs779531682, gnomAD 0.01%). 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: 1045970). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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. RCV001831160 SCV002090226 uncertain significance Usher syndrome type 2A 2020-01-17 no assertion criteria provided clinical testing

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