Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Johns Hopkins Genomics, |
RCV003493272 | SCV004239023 | likely pathogenic | Intellectual disability, autosomal dominant 47 | 2023-12-28 | criteria provided, single submitter | clinical testing | This STAG1 variant is absent from a large population dataset and has not been reported in ClinVar nor the literature, to our knowledge. This nonsense variant results in a premature stop codon in exon 29 of 34 likely leading to nonsense-mediated decay and lack of protein production. Bioinformatic analysis predicts that this variant would not affect normal exon 29 splicing, although this has not been confirmed experimentally to our knowledge. We consider this variant to be likely pathogenic for autosomal dominant intellectual developmental disorder-47. |