Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000813537 | SCV000953900 | pathogenic | Tuberous sclerosis 2 | 2018-12-07 | 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 (PMID: 10205261, 17304050). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 49831). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro1458Alafs*66) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. |
Tuberous sclerosis database |
RCV000043097 | SCV000066896 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |