ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.214C>T (p.Arg72Ter)

dbSNP: rs147903984
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
Eurofins Ntd Llc (ga) RCV000291859 SCV000340534 pathogenic not provided 2016-03-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001228980 SCV001401410 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-10-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg72*) in the MCCC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MCCC2 are known to be pathogenic (PMID: 11181649, 22642865). This variant is present in population databases (rs147903984, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with 3-methylcrotonyl-CoA carboxylase deficiency (PMID: 16010683, 22150417). ClinVar contains an entry for this variant (Variation ID: 286933). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000291859 SCV004035598 pathogenic not provided 2023-09-12 criteria provided, single submitter clinical testing Identified in the heterozygous state with a second MCCC2 variant in infants identified by newborn screening, but it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes (Dantas et al., 2005; Forsyth et al., 2016); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 27033733, 16010683, 32778825)
Baylor Genetics RCV001228980 SCV004194338 likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-03-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001228980 SCV002084283 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2020-04-10 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.