ClinVar Miner

Submissions for variant NM_183381.3(RNF13):c.988C>T (p.Arg330Cys)

gnomAD frequency: 0.00001  dbSNP: rs377044020
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001996355 SCV002286866 uncertain significance not provided 2022-09-30 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 1497998). This variant has not been reported in the literature in individuals affected with RNF13-related conditions. This variant is present in population databases (rs377044020, gnomAD 0.002%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 330 of the RNF13 protein (p.Arg330Cys).

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