ClinVar Miner

Submissions for variant NM_015702.3(MMADHC):c.455dup (p.Cys153fs)

dbSNP: rs864309743
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 RCV000203351 SCV001388964 pathogenic Methylmalonic aciduria and homocystinuria type cblD 2019-04-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MMADHC are known to be pathogenic (PMID: 18385497). This variant has been observed in an individual affected with methylmalonic acidemia (PMID: 22156578). ClinVar contains an entry for this variant (Variation ID: 219002). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Cys153Metfs*10) in the MMADHC gene. It is expected to result in an absent or disrupted protein product.
GeneReviews RCV000203351 SCV000258521 not provided Methylmalonic aciduria and homocystinuria type cblD no assertion 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.