ClinVar Miner

Submissions for variant NM_031229.4(RBCK1):c.1390C>T (p.Arg464Cys)

gnomAD frequency: 0.00013  dbSNP: rs145423115
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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 RCV000696253 SCV000824805 uncertain significance Polyglucosan body myopathy type 1 2022-08-06 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 464 of the RBCK1 protein (p.Arg464Cys). This variant is present in population databases (rs145423115, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with RBCK1-related conditions. ClinVar contains an entry for this variant (Variation ID: 574337). 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). 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.
GeneDx RCV001560955 SCV001783467 uncertain significance not provided 2019-03-27 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Observed in 50/274566 (0.018%) alleles in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect

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