ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5732G>A (p.Gly1911Glu)

gnomAD frequency: 0.00001  dbSNP: rs763747123
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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 RCV001359115 SCV001554977 uncertain significance not provided 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 1911 of the USH2A protein (p.Gly1911Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is present in population databases (rs763747123, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. 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. RCV001831186 SCV002091564 uncertain significance Usher syndrome type 2A 2020-06-24 no assertion criteria provided clinical testing

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