ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.4130T>A (p.Val1377Glu)

gnomAD frequency: 0.00008  dbSNP: rs574069625
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002161609 SCV002473259 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2023-02-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002337385 SCV002635732 uncertain significance Inborn genetic diseases 2022-01-26 criteria provided, single submitter clinical testing The p.V1629E variant (also known as c.4886T>A), located in coding exon 19 of the WNK1 gene, results from a T to A substitution at nucleotide position 4886. The valine at codon 1629 is replaced by glutamic acid, an amino acid with dissimilar 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.

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