Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001768944 | SCV001993736 | uncertain significance | not provided | 2019-05-08 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV001768944 | SCV003288047 | pathogenic | not provided | 2022-07-06 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Pro365Glyfs*26) in the DEAF1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DEAF1 are known to be pathogenic (PMID: 30923367). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with DEAF1-related conditions. This variant is present in population databases (rs756419434, gnomAD 0.002%). |