ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.182G>C (p.Arg61Pro)

dbSNP: rs201777449
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
Invitae RCV001059924 SCV001224579 pathogenic Cobalamin C disease 2023-08-29 criteria provided, single submitter clinical testing 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on MMACHC protein function. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 854802). This missense change has been observed in individual(s) with methylmalonic aciduria with homocystinuria due to cobalamin C deficiency (PMID: 28693988; Invitae). This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 61 of the MMACHC protein (p.Arg61Pro).
GeneDx RCV002254949 SCV002526207 likely pathogenic not provided 2022-06-11 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28693988)
Fulgent Genetics, Fulgent Genetics RCV001059924 SCV002811031 likely pathogenic Cobalamin C disease 2022-05-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001059924 SCV004178135 likely pathogenic Cobalamin C disease 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV001059924 SCV004193200 likely pathogenic Cobalamin C disease 2023-04-13 criteria provided, single submitter 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.