ClinVar Miner

Submissions for variant NM_017662.5(TRPM6):c.1421G>A (p.Arg474Gln)

gnomAD frequency: 0.00251  dbSNP: rs142043309
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000909074 SCV001053864 likely benign not provided 2023-12-17 criteria provided, single submitter clinical testing
GeneDx RCV000909074 SCV004034667 uncertain significance not provided 2023-03-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Breakthrough Genomics, Breakthrough Genomics RCV000909074 SCV005226486 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003958289 SCV004768086 benign TRPM6-related disorder 2020-02-27 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.