Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001227586 | SCV001399948 | uncertain significance | Atrial fibrillation, familial, 7 | 2023-05-05 | 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 955024). This variant has not been reported in the literature in individuals affected with KCNA5-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 116 of the KCNA5 protein (p.Ser116Phe). |
Fulgent Genetics, |
RCV001227586 | SCV002800951 | uncertain significance | Atrial fibrillation, familial, 7 | 2021-11-09 | criteria provided, single submitter | clinical testing |