ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.219CAC[4] (p.Thr75_Glu76insThrThr)

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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 RCV003782236 SCV004577727 uncertain significance Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2023-05-19 criteria provided, single submitter clinical testing This variant, c.219_224dup, results in the insertion of 2 amino acid(s) of the WNK1 protein (p.Thr74_Thr75dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with WNK1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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