ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.578C>A (p.Pro193Gln) (rs72647372)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000380763 SCV000381238 likely benign Hereditary sensory and autonomic neuropathy type II 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000286715 SCV000381239 likely benign Pseudohypoaldosteronism, type 2 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000558626 SCV000649456 uncertain significance Hereditary sensory and autonomic neuropathy type IIA; Pseudohypoaldosteronism type 2C 2018-12-26 criteria provided, single submitter clinical testing This sequence change replaces proline with glutamine at codon 193 of the WNK1 protein (p.Pro193Gln). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and glutamine. This variant is present in population databases (rs72647372, ExAC 0.07%). This variant has not been reported in the literature in individuals with WNK1-related disease. ClinVar contains an entry for this variant (Variation ID: 310545). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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