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
Invitae RCV000001998 SCV002245556 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2023-01-18 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with 3 Methylcrotonyl-CoA carboxylase deficiency (PMID: 11181649). This variant is present in population databases (rs119103220, gnomAD 0.01%). 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). ClinVar contains an entry for this variant (Variation ID: 1921). For these reasons, this variant has been classified as Pathogenic. 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. Experimental studies have shown that this missense change affects MCCC2 function (PMID: 11181649). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MCCC2 protein function.
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 2022-04-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV000001998 SCV004194328 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2023-10-14 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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