ClinVar Miner

Submissions for variant NM_000254.2(MTR):c.1141G>A (p.Ala381Thr) (rs144777709)

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 RCV000426813 SCV000535771 uncertain significance not provided 2018-05-10 criteria provided, single submitter clinical testing The A381T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The A381T 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 conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Illumina Clinical Services Laboratory,Illumina RCV000326202 SCV000356030 uncertain significance Disorders of Intracellular Cobalamin Metabolism 2016-06-14 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.