Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000466789 | SCV000544510 | pathogenic | Tuberous sclerosis 2 | 2016-12-12 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TSC2 are known to be pathogenic. This particualr variant has been reported in individuals affected with tuberous sclerosis in the Leiden Open-source Variation Database (TSC2-LOVD)(PMID: 21520333). This sequence change affects a donor splice site in intron 14 of the TSC2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. |
Tuberous sclerosis database |
RCV000055570 | SCV000083794 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |