ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.5144A>G (p.Asn1715Ser)

gnomAD frequency: 0.00006  dbSNP: rs756614581
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
Invitae RCV000647854 SCV000769657 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2023-05-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002358851 SCV002652574 uncertain significance Inborn genetic diseases 2020-06-15 criteria provided, single submitter clinical testing The p.N1967S variant (also known as c.5900A>G), located in coding exon 19 of the WNK1 gene, results from an A to G substitution at nucleotide position 5900. The asparagine at codon 1967 is replaced by serine, an amino acid with highly similar properties. This amino acid position is not conserved, however, Serine is a reference amino acid in several 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.
Fulgent Genetics, Fulgent Genetics RCV000647854 SCV002790243 uncertain significance Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2021-11-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003420135 SCV004116230 uncertain significance WNK1-related disorder 2022-11-21 criteria provided, single submitter clinical testing The WNK1 c.5144A>G variant is predicted to result in the amino acid substitution p.Asn1715Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.026% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/12-995114-A-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.