ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.1178A>C (p.Gln393Pro)

gnomAD frequency: 0.00001  dbSNP: rs750782118
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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 RCV001937758 SCV002179935 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces glutamine with proline at codon 393 of the MCCC2 protein (p.Gln393Pro). The glutamine residue is highly conserved and there is a moderate physicochemical difference between glutamine and proline. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with 3-methylcrotonyl-CoA carboxylase deficiency (Invitae). 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 C0"). 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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