ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.3188C>T (p.Thr1063Ile) (rs201379287)

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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 RCV000383285 SCV000381942 uncertain significance Pseudohypoaldosteronism, type 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000288827 SCV000381943 uncertain significance Hereditary sensory and autonomic neuropathy type II 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000647831 SCV000769634 uncertain significance Hereditary sensory and autonomic neuropathy type IIA; Pseudohypoaldosteronism type 2C 2018-12-03 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 1063 of the WNK1 protein (p.Thr1063Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs201379287, ExAC 0.03%). This variant has not been reported in the literature in individuals with WNK1-related disease. ClinVar contains an entry for this variant (Variation ID: 310816). 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"). 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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