ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.2290A>G (p.Thr764Ala) (rs143890340)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000647857 SCV000769660 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 alanine at codon 764 of the WNK1 protein (p.Thr764Ala). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and alanine. This variant is present in population databases (rs143890340, ExAC 0.1%). This variant has been observed in an individual affected with erythromelalgia (PMID: 29911575). ClinVar contains an entry for this variant (Variation ID: 538527). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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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