ClinVar Miner

Submissions for variant NM_000254.3(MTR):c.907A>G (p.Met303Val)

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
Ambry Genetics RCV002759148 SCV003745655 uncertain significance Inborn genetic diseases 2022-01-10 criteria provided, single submitter clinical testing The c.907A>G (p.M303V) alteration is located in exon 10 (coding exon 10) of the MTR gene. This alteration results from a A to G substitution at nucleotide position 907, causing the methionine (M) at amino acid position 303 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003778630 SCV004671422 uncertain significance Methylcobalamin deficiency type cblG 2023-08-17 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 303 of the MTR protein (p.Met303Val). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MTR protein function. ClinVar contains an entry for this variant (Variation ID: 2404849). This variant has not been reported in the literature in individuals affected with MTR-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%).

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.