ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2311G>A (p.Gly771Ser)

gnomAD frequency: 0.00001  dbSNP: rs727505083
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156523 SCV000206242 uncertain significance not specified 2014-05-09 criteria provided, single submitter clinical testing The Gly771Ser variant in USH1C has not been previously reported in individuals w ith hearing loss and was absent from large population studies. Computational pre diction tools and conservation analyses do not provide strong support for or aga inst an impact to the protein. In summary, the clinical significance of the Gly7 71Ser variant is uncertain.
Invitae RCV002515024 SCV003458061 uncertain significance not provided 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 471 of the USH1C protein (p.Gly471Ser). This variant is present in population databases (rs727505083, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with USH1C-related conditions. ClinVar contains an entry for this variant (Variation ID: 179726). 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: "Probably Damaging"; 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. RCV001831977 SCV002081395 uncertain significance Usher syndrome type 1C 2019-11-11 no assertion criteria provided clinical testing

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