Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001853087 | SCV002214867 | pathogenic | Tuberous sclerosis 2 | 2022-04-12 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Trp82*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with tuberous sclerosis complex (PMID: 24789117). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 64913). |
Tuberous sclerosis database |
RCV000055114 | SCV000083332 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |