Submissions for variant NM_018979.4(WNK1):c.3133G>T (p.Val1045Phe) (rs1565573971)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000694781	SCV000823240	uncertain significance	Hereditary sensory and autonomic neuropathy type IIA; Pseudohypoaldosteronism type 2C	2018-01-15	criteria provided, single submitter	clinical testing	This sequence change replaces valine with phenylalanine at codon 1045 of the WNK1 protein (p.Val1045Phe). The valine residue is moderately conserved and there is a small physicochemical difference between valine and phenylalanine. This variant is not present in population databases (ExAC no frequency). 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: "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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