ClinVar Miner

Submissions for variant NM_021625.4(TRPV4):c.2198G>A (p.Trp733Ter) (rs200757159)

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
GeneDx RCV000202515 SCV000619117 uncertain significance not provided 2017-07-17 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the TRPV4 gene. The W733X variant has not been reported as benign as it was identified in an individual with distal hereditary motor neuropathy, but did not segregate with disease in the family, and it was present in a control individual; however, additional evidence is not available (Fawcett et al., 2012). The W733X variant is observed in 1/ 9580 (0.01%) alleles from individuals of African background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). TheW733X nonsense variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. However, loss-of-function is not a known mechanism of disease for this gene. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
GeneReviews RCV000202515 SCV000148038 benign not provided 2014-04-02 no assertion criteria provided literature only

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.