ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.728G>C (p.Gly243Ala)

dbSNP: rs770351523
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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 RCV001889432 SCV002160261 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces glycine with alanine at codon 243 of the MCCC2 protein (p.Gly243Ala). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and alanine. This variant is present in population databases (rs770351523, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with MCCC2-related conditions. 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. 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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