ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.709G>C (p.Gly237Arg)

dbSNP: rs781559418
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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 RCV000556717 SCV000644152 likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-10-07 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 237 of the MCCC2 protein (p.Gly237Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with MCCC2-related conditions (internal data). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 467808). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt MCCC2 protein function with a positive predictive value of 80%. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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