ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.397G>A (p.Val133Ile)

gnomAD frequency: 0.00001  dbSNP: rs753342253
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001397924 SCV001599686 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2023-09-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002377600 SCV002625180 uncertain significance Inborn genetic diseases 2022-04-28 criteria provided, single submitter clinical testing The p.V133I variant (also known as c.397G>A), located in coding exon 1 of the WNK1 gene, results from a G to A substitution at nucleotide position 397. The valine at codon 133 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.