ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.7138C>T (p.Arg2380Trp)

gnomAD frequency: 0.00005  dbSNP: rs56262445
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000647838 SCV000769641 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2023-12-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002422364 SCV002676876 uncertain significance Inborn genetic diseases 2021-12-29 criteria provided, single submitter clinical testing The p.R2632W variant (also known as c.7894C>T), located in coding exon 28 of the WNK1 gene, results from a C to T substitution at nucleotide position 7894. The arginine at codon 2632 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV000647838 SCV002788272 uncertain significance Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2022-05-19 criteria provided, single submitter clinical testing

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