Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000814042 | SCV000954434 | uncertain significance | Atrial fibrillation, familial, 7 | 2022-06-04 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 657442). 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. This premature translational stop signal has been observed in individual(s) with pulmonary hypertension and/or sarcoidosis (PMID: 24936649, 24950668). This variant is present in population databases (rs745920419, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Glu208*) in the KCNA5 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 406 amino acid(s) of the KCNA5 protein. |
Ai |
RCV002223949 | SCV002502863 | likely pathogenic | not provided | 2022-01-29 | criteria provided, single submitter | clinical testing |