ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.518C>T (p.Ser173Leu)

gnomAD frequency: 0.00004  dbSNP: rs752866557
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001378263 SCV001575798 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2025-01-06 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 173 of the MCCC2 protein (p.Ser173Leu). This variant is present in population databases (rs752866557, gnomAD 0.006%). This missense change has been observed in individual(s) with 3-methylcrotonyl-CoA carboxylase deficiency (PMID: 11181649, 22642865). ClinVar contains an entry for this variant (Variation ID: 203803). 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). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001378263 SCV002811400 likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-04-26 criteria provided, single submitter clinical testing
Baylor Genetics RCV001378263 SCV004194347 likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-02-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001378263 SCV002084291 likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2021-08-17 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.