ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.4135A>G (p.Thr1379Ala)

gnomAD frequency: 0.00004  dbSNP: rs758763241
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000803133 SCV000942994 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2023-10-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336619 SCV002634779 uncertain significance Inborn genetic diseases 2020-08-04 criteria provided, single submitter clinical testing The p.T1631A variant (also known as c.4891A>G), located in coding exon 19 of the WNK1 gene, results from an A to G substitution at nucleotide position 4891. The threonine at codon 1631 is replaced by alanine, an amino acid with 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.
Fulgent Genetics, Fulgent Genetics RCV000803133 SCV002804051 uncertain significance Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2022-01-04 criteria provided, single submitter clinical testing

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