Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000815873 | SCV000956349 | pathogenic | Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C | 2018-11-07 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in WNK1 are known to be pathogenic (PMID: 22910560). This variant has not been reported in the literature in individuals with WNK1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln761Hisfs*17) in the WNK1 gene. It is expected to result in an absent or disrupted protein product. |