ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2371G>A (p.Glu791Lys)

gnomAD frequency: 0.00007  dbSNP: rs772123405
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001318893 SCV001509613 uncertain significance not provided 2022-05-17 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 491 of the USH1C protein (p.Glu491Lys). This variant is present in population databases (rs772123405, gnomAD 0.05%). 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: 1019458). 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. RCV001835594 SCV002081351 uncertain significance Usher syndrome type 1C 2020-07-10 no assertion criteria provided clinical testing

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