ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.1010G>C (p.Arg337Thr)

dbSNP: rs980603424
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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 RCV001036916 SCV001200304 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2019-12-11 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed in individual(s) with 3 methylcrotonyl-CoA carboxylase deficiency (Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with threonine at codon 337 of the MCCC2 protein (p.Arg337Thr). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and threonine.

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