Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003512007 | SCV004296666 | pathogenic | Tuberous sclerosis 2 | 2022-12-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 65230). This premature translational stop signal has been observed in individual(s) with clinical features of tuberous sclerosis complex (PMID: 28087349). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp1194*) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). |
Tuberous sclerosis database |
RCV000055451 | SCV000083672 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |