Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000523003 | SCV000617350 | pathogenic | not provided | 2017-12-13 | criteria provided, single submitter | clinical testing | The c.2546-1 G>A splice site variant in the TSC2 gene destroys the canonical splice acceptor site in intron 22. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. It has been reported as an apparently de novo pathogenic variant in the TSC2 LOVD database and as a pathogenic variant in the TSC project database. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, c.2546-1 G>A is interpreted to be a pathogenic variant and its presence is consistent with a diagnosis of tuberous sclerosis |
Tuberous sclerosis database |
RCV000042829 | SCV000066625 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |