ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.3068T>C (p.Leu1023Ser)

dbSNP: rs766021155
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000647839 SCV000769642 uncertain significance Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2017-09-17 criteria provided, single submitter clinical testing 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. 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with WNK1-related disease. This variant is present in population databases (rs766021155, ExAC 0.001%). This sequence change replaces leucine with serine at codon 1023 of the WNK1 protein (p.Leu1023Ser). The leucine residue is highly conserved and there is a large physicochemical difference between leucine and serine.

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