Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000579195 | SCV000681376 | pathogenic | not provided | 2018-01-11 | criteria provided, single submitter | clinical testing | The c.5160+2 T>C splice site variant in the TSC2 gene destroys the canonical splice donor site in intron 40. 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. Although this pathogenic variant has not been previously reported to our knowledge, different splice site variants at the same canonical splice donor site have been reported previously in association with tuberous sclerosis complex (TSC) (Stenson et al., 2014). |
Tuberous sclerosis database |
RCV000055455 | SCV000083676 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation | ||
Baylor Genetics | RCV000722175 | SCV000854628 | pathogenic | Tuberous sclerosis 2 | 2018-11-18 | no assertion criteria provided | clinical testing |