Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000560044 | SCV000649413 | uncertain significance | Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C | 2017-07-15 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with WNK1-related disease. This variant is present in population databases (rs769099133, ExAC 0.003%). This sequence change replaces valine with alanine at codon 1010 of the WNK1 protein (p.Val1010Ala). The valine residue is weakly conserved and there is a small physicochemical difference between valine and alanine. |
Fulgent Genetics, |
RCV000560044 | SCV002790938 | uncertain significance | Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C | 2022-01-20 | criteria provided, single submitter | clinical testing |