ClinVar Miner

Submissions for variant NM_213655.5(WNK1):c.3200G>A (p.Gly1067Asp)

gnomAD frequency: 0.00001  dbSNP: rs754778552
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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 RCV001066945 SCV001231969 uncertain significance Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2022-06-27 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 1067 of the WNK1 protein (p.Gly1067Asp). 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. ClinVar contains an entry for this variant (Variation ID: 860609). This variant has not been reported in the literature in individuals affected with WNK1-related conditions. This variant is present in population databases (rs754778552, gnomAD 0.007%).

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