ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.1567A>G (p.Ser523Gly)

dbSNP: rs1459143051
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001580737 SCV001810496 likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2021-07-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001580737 SCV003810816 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2021-03-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001580737 SCV005834701 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-09-19 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 523 of the MCCC2 protein (p.Ser523Gly). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of 3-methylcrotonyl-CoA carboxylase deficiency (PMID: 22264772, 22642865, 30626930). ClinVar contains an entry for this variant (Variation ID: 1210434). 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 not expected to disrupt MCCC2 protein function with a negative predictive value of 80%. 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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