ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.1787C>T (p.Ser596Phe)

gnomAD frequency: 0.00003  dbSNP: rs144114167
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000695940 SCV000824480 uncertain significance Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2023-07-25 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 574105). This variant has not been reported in the literature in individuals affected with WNK1-related conditions. This variant is present in population databases (rs144114167, gnomAD 0.006%). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 596 of the WNK1 protein (p.Ser596Phe). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt WNK1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002397423 SCV002711391 uncertain significance Inborn genetic diseases 2022-02-28 criteria provided, single submitter clinical testing The p.S596F variant (also known as c.1787C>T), located in coding exon 7 of the WNK1 gene, results from a C to T substitution at nucleotide position 1787. The serine at codon 596 is replaced by phenylalanine, an amino acid with highly 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.
Fulgent Genetics, Fulgent Genetics RCV000695940 SCV002785043 uncertain significance Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2021-12-07 criteria provided, single submitter clinical testing

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