ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.844C>T (p.Arg282Cys)

gnomAD frequency: 0.00002  dbSNP: rs145245642
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001297278 SCV001486286 uncertain significance not provided 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 282 of the USH1C protein (p.Arg282Cys). This variant is present in population databases (rs145245642, gnomAD 0.004%). 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: 1001050). 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 C15"). 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. RCV001835406 SCV002084689 uncertain significance Usher syndrome type 1C 2020-01-27 no assertion criteria provided clinical testing

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