ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14335G>A (p.Glu4779Lys)

gnomAD frequency: 0.00001  dbSNP: rs769420341
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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 RCV001313209 SCV001503693 uncertain significance not provided 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 4779 of the USH2A protein (p.Glu4779Lys). This variant is present in population databases (rs769420341, gnomAD 0.002%). 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: 1014469). 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 tolerated. 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. RCV001835536 SCV002088228 uncertain significance Usher syndrome type 2A 2020-04-29 no assertion criteria provided clinical testing

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