Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001895955 | SCV002155416 | uncertain significance | Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C | 2023-06-21 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1384383). This variant has not been reported in the literature in individuals affected with WNK1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 871 of the WNK1 protein (p.Pro871Ser). 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. |
| Ambry Genetics | RCV003382684 | SCV004089914 | uncertain significance | Inborn genetic diseases | 2023-08-23 | criteria provided, single submitter | clinical testing | The c.2611C>T (p.P871S) alteration is located in exon 10 (coding exon 10) of the WNK1 gene. This alteration results from a C to T substitution at nucleotide position 2611, causing the proline (P) at amino acid position 871 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |