ClinVar Miner

Submissions for variant NM_032387.5(WNK4):c.3553C>T (p.Arg1185Cys)

gnomAD frequency: 0.00024  dbSNP: rs137853095
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731744 SCV000859593 uncertain significance not provided 2018-02-06 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000008102 SCV001286787 uncertain significance Pseudohypoaldosteronism type 2B 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV000731744 SCV002559497 uncertain significance not provided 2022-01-27 criteria provided, single submitter clinical testing Observed in three family members with Pseudohypoaldosteronism type II from the published literature (Wilson et al., 2001); Published functional studies demonstrate a damaging effect with reduced baseline inhibition of WNK4 activity and reduced surface expression of sodium chloride cotransporter (NCC) consistent with a gain of function (Cai et al., 2006; Na et al., 2013); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 16688122, 34927382, 23054253, 11498583, 22114204)
Fulgent Genetics, Fulgent Genetics RCV000008102 SCV002797065 uncertain significance Pseudohypoaldosteronism type 2B 2022-03-30 criteria provided, single submitter clinical testing
OMIM RCV000008102 SCV000028307 pathogenic Pseudohypoaldosteronism type 2B 2001-08-10 no assertion criteria provided literature only
GeneReviews RCV000008102 SCV000503031 not provided Pseudohypoaldosteronism type 2B no assertion 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.