ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.2441C>T (p.Ser814Leu)

gnomAD frequency: 0.00001  dbSNP: rs199930107
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000647859 SCV000769662 uncertain significance Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2017-12-17 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 814 of the WNK1 protein (p.Ser814Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs199930107, ExAC 0.02%). This variant has not been reported in the literature in individuals with WNK1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.

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