ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.602G>A (p.Arg201His)

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 RCV002814346 SCV003030755 uncertain significance Cobalamin C disease 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 201 of the MMACHC protein (p.Arg201His). This variant is present in population databases (rs200515707, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with MMACHC-related conditions. 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. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002795888 SCV003741553 uncertain significance Inborn genetic diseases 2021-08-30 criteria provided, single submitter clinical testing The c.602G>A (p.R201H) alteration is located in exon 4 (coding exon 4) of the MMACHC gene. This alteration results from a G to A substitution at nucleotide position 602, causing the arginine (R) at amino acid position 201 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV002814346 SCV004178204 uncertain significance Cobalamin C disease 2023-04-11 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003481334 SCV004227834 uncertain significance not provided 2023-01-03 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.