Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001324631 | SCV001515591 | uncertain significance | Atrial fibrillation, familial, 7 | 2020-05-06 | criteria provided, single submitter | clinical testing | This variant has been observed in individual(s) with pulmonary arterial hypertension (PMID: 31727138). This variant is present in population databases (rs755829081, ExAC 0.01%). This sequence change replaces serine with asparagine at codon 348 of the KCNA5 protein (p.Ser348Asn). The serine residue is highly conserved and there is a small physicochemical difference between serine and asparagine. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |
Fulgent Genetics, |
RCV001324631 | SCV002816036 | uncertain significance | Atrial fibrillation, familial, 7 | 2021-08-15 | criteria provided, single submitter | clinical testing |