Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000688023 | SCV000815619 | uncertain significance | Atrial standstill 1; Atrial fibrillation, familial, 11 | 2023-01-14 | 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. ClinVar contains an entry for this variant (Variation ID: 567837). This premature translational stop signal has been observed in individual(s) with atrial fibrillation (PMID: 34495297). This variant is present in population databases (rs781802553, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Leu145Serfs*14) in the GJA5 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 214 amino acid(s) of the GJA5 protein. |
Gene |
RCV001756167 | SCV002007206 | uncertain significance | not provided | 2022-10-07 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Frameshift variant predicted to result in protein truncation as the last 214 amino acids are lost and replaced with 13 incorrect amino acids, although only one downstream loss-of-function variant has been reported in HGMD and loss-of-function is not an established mechanism of disease (HGMD); Not observed at significant frequency in large population cohorts (gnomAD) |