ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.4661G>A (p.Gly1554Glu)

gnomAD frequency: 0.00001  dbSNP: rs1180253355
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001878494 SCV002117993 uncertain significance Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2021-07-28 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt WNK1 protein function. This variant has not been reported in the literature in individuals affected with WNK1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with glutamic acid at codon 1806 of the WNK1 protein (p.Gly1806Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid.

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