ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.2558C>T (p.Thr853Met)

gnomAD frequency: 0.00001  dbSNP: rs766223909
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000557408 SCV000649410 uncertain significance Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2020-02-22 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 853 of the WNK1 protein (p.Thr853Met). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and methionine. In summary, this variant has uncertain impact on WNK1 function. The available evidence is currently insufficient to determine its role 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with a WNK1-related disease. This variant is present in population databases (rs766223909, ExAC 0.001%).

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