Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002221760 | SCV002498939 | likely pathogenic | not provided | 2023-05-02 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV002221760 | SCV004514757 | pathogenic | not provided | 2023-06-15 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1676378). This variant has not been reported in the literature in individuals affected with DEAF1-related conditions. This variant is present in population databases (rs778326610, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Arg261*) 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). |