ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.929C>G (p.Pro310Arg)

dbSNP: rs119103221
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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 RCV000001999 SCV001225609 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2023-09-19 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 310 of the MCCC2 protein (p.Pro310Arg). This variant is present in population databases (rs119103221, gnomAD 0.006%). This missense change has been observed in individual(s) with 3-methylcrotonyl-CoA carboxylase deficiency (PMID: 11181649, 22642865; Invitae). ClinVar contains an entry for this variant (Variation ID: 1922). 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. Experimental studies have shown that this missense change affects MCCC2 function (PMID: 11181649). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000001999 SCV004194321 likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-01-31 criteria provided, single submitter clinical testing
OMIM RCV000001999 SCV000022157 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2001-02-01 no assertion criteria provided literature only
Natera, Inc. RCV000001999 SCV002084911 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2021-09-13 no assertion criteria provided clinical testing
Gene Friend Way, National Innovation Center RCV003313912 SCV004013881 pathogenic Autism spectrum disorder 2023-07-28 no assertion criteria provided clinical testing 3-methylcrotonyl-CoA carboxylase (3MCC) deficiency involves mutations in the MCCC1 or MCCC2 genes and impaired leucine metabolism. This missense change has been confirmed to affect MCCC2 function and can be observed in individual(s) with 3-methylcrotonyl-CoA carboxylase deficiency (PMID: 11181649). Mutations in MCCC2 had been found to be associated with ASD (PMID: 31209396).

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