ClinVar Miner

Submissions for variant NM_052845.4(MMAB):c.377C>T (p.Ser126Leu) (rs771053425)

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
GeneDx RCV000498258 SCV000589819 likely pathogenic not provided 2016-04-12 criteria provided, single submitter clinical testing The S126L variant has not been published in association with methylmalonic acidaemia, cblB type, nor has it been reported as a benign variant to our knowledge. Functional analysis of S126L found that it is associated with impaired ATP and cobalamin binding resulting in significantly reduced enzyme activity compared to wild type (Fan et al., 2008). The S126L variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is not conserved. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Counsyl RCV000673685 SCV000798915 uncertain significance Vitamin B12-responsive methylmalonic acidemia type cblB 2018-03-28 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.