Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001232994 | SCV001405571 | uncertain significance | Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C | 2019-10-25 | criteria provided, single submitter | clinical testing | 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. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). This variant has not been reported in the literature in individuals with WNK1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 12 of the WNK1 gene. It does not directly change the encoded amino acid sequence of the WNK1 protein, but it affects a nucleotide within the consensus splice site of the intron. |
| Ambry Genetics | RCV002357001 | SCV002620012 | uncertain significance | Inborn genetic diseases | 2020-12-22 | criteria provided, single submitter | clinical testing | The c.3867+4A>C intronic variant results from an A to C substitution 4 nucleotides after coding exon 12 in the WNK1 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |