Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001217759 | SCV001389611 | uncertain significance | Atrial fibrillation, familial, 7 | 2023-06-02 | 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 946819). This variant has not been reported in the literature in individuals affected with KCNA5-related conditions. This variant is present in population databases (rs774114620, gnomAD 0.006%). This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 381 of the KCNA5 protein (p.Pro381Thr). |