ClinVar Miner

Submissions for variant NM_002454.3(MTRR):c.446C>T (p.Ala149Val)

gnomAD frequency: 0.00077  dbSNP: rs142714881
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000435077 SCV000534796 uncertain significance not provided 2016-12-22 criteria provided, single submitter clinical testing The A149V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The A149V variant was not observed with any significant frequency in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The 1000 Genomes Project Consortium reports A149V was observed in 4/226 alleles from individuals of Gambian background. The A149V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. 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.
Invitae RCV001081253 SCV001042127 likely benign Methylcobalamin deficiency type cblE 2024-01-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001081253 SCV003811480 uncertain significance Methylcobalamin deficiency type cblE 2022-04-19 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.