ClinVar Miner

Submissions for variant NM_000254.2(MTR):c.2815G>C (p.Gly939Arg) (rs113042166)

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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757489 SCV000885737 likely benign not provided 2018-01-05 criteria provided, single submitter clinical testing The c.2815G>C; p.Gly939Arg variant (rs113042166), to our knowledge, is not reported in the medical literature, nor has it been previously identified by our laboratory, but is classified as likely benign/unknown significance in ClinVar (ClinVar ID 296573). This variant is listed in the genome Aggregation Database (gnomAD) with an African population frequency of 1.6% (identified on 390 out of 24,030 chromosomes, including 3 homozygotes). The glycine at position 939 is moderately conserved, considering 12 species, and computational analyses of the effects of the p.Gly939Arg variant on protein structure and function make conflicting predictions (SIFT: tolerated, MutationTaster: disease causing, PolyPhen-2: benign). Based on the available information, the p.Gly939Arg variant is likely to be benign.
GeneDx RCV000424449 SCV000513722 likely benign not specified 2017-02-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000310738 SCV000356044 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.