ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.4703A>C (p.His1568Pro)

gnomAD frequency: 0.00005  dbSNP: rs776834411
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697909 SCV000826543 uncertain significance Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2019-05-30 criteria provided, single submitter clinical testing This sequence change replaces histidine with proline at codon 1568 of the WNK1 protein (p.His1568Pro). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and proline. This variant is present in population databases (rs776834411, ExAC 0.01%). 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 C65"). 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.
Revvity Omics, Revvity Omics RCV003140106 SCV003823776 uncertain significance not provided 2019-08-28 criteria provided, single submitter clinical testing

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