Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000681089 | SCV000808543 | pathogenic | not provided | 2020-04-29 | 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 16 amino acids are replaced with 3 different amino acids, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (Stenson et al., 2014); Not observed in large population cohorts (Lek et al., 2016) |
| Invitae | RCV000800009 | SCV000939706 | uncertain significance | Baraitser-Winter syndrome | 2018-10-01 | criteria provided, single submitter | clinical testing | This sequence change results in a premature translational stop signal in the ACTB gene (p.Gln360Profs*4). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 16 amino acids of the ACTB protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ACTB-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acids is currently unknown. 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. |
| Suma Genomics | RCV003330089 | SCV004037084 | likely pathogenic | Baraitser-Winter syndrome 1 | criteria provided, single submitter | clinical testing |