ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.123dup (p.Pro42fs)

dbSNP: rs2149323203
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001390651 SCV001592452 pathogenic Cobalamin C disease 2020-02-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MMACHC are known to be pathogenic (PMID: 16311595). This variant has been observed in individual(s) with methylmalonic aciduria and homocystinuria (PMID: 19370762). This variant is also known in literature as c.122dupT. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro42Thrfs*19) in the MMACHC gene. It is expected to result in an absent or disrupted protein product.
Baylor Genetics RCV001390651 SCV004193185 pathogenic Cobalamin C disease 2023-07-12 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.