Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001927032 | SCV002202729 | uncertain significance | Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C | 2024-10-12 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 2209 of the WNK1 protein (p.Arg2209His). This variant is present in population databases (rs36083875, gnomAD 0.2%). This missense change has been observed in individual(s) with primary distal renal tubular acidosis (PMID: 31949730). This variant is also known as p.R2217H. ClinVar contains an entry for this variant (Variation ID: 1425956). 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. |
| Ambry Genetics | RCV002361255 | SCV002663182 | uncertain significance | Inborn genetic diseases | 2022-03-27 | criteria provided, single submitter | clinical testing | The p.R2209H variant (also known as c.6626G>A), located in coding exon 24 of the WNK1 gene, results from a G to A substitution at nucleotide position 6626. The arginine at codon 2209 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV001927032 | SCV002815804 | uncertain significance | Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C | 2022-03-22 | criteria provided, single submitter | clinical testing | |
| Mayo Clinic Laboratories, |
RCV004793614 | SCV005408192 | uncertain significance | not provided | 2024-01-19 | criteria provided, single submitter | clinical testing | BS1 |