ClinVar Miner

Submissions for variant NM_213655.5(WNK1):c.2387T>G (p.Val796Gly)

dbSNP: rs1951576991
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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 RCV001317712 SCV001508382 uncertain significance Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2020-04-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with WNK1-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces valine with glycine at codon 796 of the WNK1 protein (p.Val796Gly). The valine residue is weakly conserved and there is a moderate physicochemical difference between valine and glycine.

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