Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000791475 | SCV000930726 | uncertain significance | Atrial fibrillation, familial, 7 | 2018-08-07 | criteria provided, single submitter | clinical testing | This sequence change replaces valine with methionine at codon 236 of the KCNA5 protein (p.Val236Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs762579966, ExAC 0.002%). This variant has not been reported in the literature in individuals with KCNA5-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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. |