ClinVar Miner

Submissions for variant NM_213655.5(WNK1):c.3088_3091del (p.Val1030fs)

dbSNP: rs2154071927
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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 RCV001389427 SCV001590789 pathogenic Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2020-04-22 criteria provided, single submitter clinical testing 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 conditions. This sequence change creates a premature translational stop signal (p.Val1030Leufs*10) in the WNK1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in WNK1 are known to be pathogenic (PMID: 22910560). For these reasons, this variant has been classified as Pathogenic.

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