ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.838G>T (p.Asp280Tyr)

gnomAD frequency: 0.00001  dbSNP: rs119103226
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000002004 SCV000955887 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-01-06 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 280 of the MCCC2 protein (p.Asp280Tyr). This variant is present in population databases (rs119103226, gnomAD 0.09%). This missense change has been observed in individuals with 3 methylcrotonyl-CoA carboxylase deficiency (PMID: 17968484, 22030835, 22150417, 28018443). ClinVar contains an entry for this variant (Variation ID: 1927). 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 with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University RCV000002004 SCV001622419 likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2021-05-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV000002004 SCV004194350 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-02-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000002004 SCV005666607 likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-04-09 criteria provided, single submitter clinical testing
OMIM RCV000002004 SCV000022162 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2007-01-01 no assertion criteria provided literature only

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.