ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.5714T>A (p.Val1905Glu)

gnomAD frequency: 0.00009  dbSNP: rs759895083
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000807813 SCV000947887 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002363078 SCV002656922 uncertain significance Inborn genetic diseases 2019-11-04 criteria provided, single submitter clinical testing The p.V2157E variant (also known as c.6470T>A), located in coding exon 24 of the WNK1 gene, results from a T to A substitution at nucleotide position 6470. The valine at codon 2157 is replaced by glutamic acid, an amino acid with dissimilar properties. This amino acid position is 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.
CeGaT Center for Human Genetics Tuebingen RCV003392615 SCV004129689 uncertain significance not provided 2023-10-01 criteria provided, single submitter clinical testing WNK1: PM2, BP4

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