Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000470732 | SCV000563905 | uncertain significance | Rhabdoid tumor predisposition syndrome 2 | 2017-01-06 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon 30 of the SMARCA4 gene. This is predicted to lead to an in-frame deletion of 96 nucleotides encoding 32 amino acid residues, preserving the integrity of the reading frame. This gross deletion has not been reported in the literature in individuals with a SMARCA4-related disease. Tissue-specific transcript isoforms that include or skip exon 30 (also referred as exon 28B) have been described in the literature (PMID: 18437052). The clinical significance of this deletion is not fully understood. In summary, this variant is an in-frame deletion of exon 30 with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. |