ClinVar Miner

Submissions for variant NM_021625.5(TRPV4):c.1337G>T (p.Arg446Leu)

dbSNP: rs143502097
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517129 SCV000615849 benign not specified 2017-07-31 criteria provided, single submitter clinical testing
GeneDx RCV001696825 SCV000723655 benign not provided 2019-12-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000861110 SCV001001333 likely benign Charcot-Marie-Tooth disease axonal type 2C 2023-12-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002383998 SCV002690388 likely benign Inborn genetic diseases 2020-03-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004553139 SCV004794426 likely benign TRPV4-related disorder 2020-05-15 no assertion criteria provided clinical testing This variant is classified as likely 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.