Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001069066 | SCV001234211 | pathogenic | Tuberous sclerosis 2 | 2019-02-04 | 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 observed in individuals with cardiac rhabdomyomas (PMID: 21418539, 29642139). ClinVar contains an entry for this variant (Variation ID: 64857). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln1605*) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. |
Tuberous sclerosis database |
RCV000055057 | SCV000083275 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |