ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.188G>A (p.Arg63Lys)

dbSNP: rs2108565998
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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 RCV001892307 SCV002154951 uncertain significance 3-methylcrotonyl-CoA carboxylase 1 deficiency 2021-09-10 criteria provided, single submitter clinical testing This sequence change replaces arginine with lysine at codon 63 of the MCCC1 protein (p.Arg63Lys). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with MCCC1-related conditions. 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: "Benign"; Align-GVGD: "Class C25"). 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.

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