ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.464G>A (p.Arg155Gln)

gnomAD frequency: 0.00001  dbSNP: rs119103220
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000001998 SCV002245556 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-08-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 155 of the MCCC2 protein (p.Arg155Gln). This variant is present in population databases (rs119103220, gnomAD 0.01%). This missense change has been observed in individual(s) with 3 Methylcrotonyl-CoA carboxylase deficiency (PMID: 11181649). ClinVar contains an entry for this variant (Variation ID: 1921). 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%. Experimental studies have shown that this missense change affects MCCC2 function (PMID: 11181649). This variant disrupts the p.Arg155 amino acid residue in MCCC2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 16010683, 22642865, 26566957). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Genetics and Molecular Pathology, SA Pathology RCV000001998 SCV002761741 likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2021-12-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000001998 SCV002813433 likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-02-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV000001998 SCV004194328 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-01-05 criteria provided, single submitter clinical testing
OMIM RCV000001998 SCV000022156 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2001-02-01 no assertion criteria provided literature only

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