Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001387404 | SCV001588020 | pathogenic | Tuberous sclerosis 2 | 2022-09-01 | 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: 65012). This premature translational stop signal has been observed in individual(s) with tuberous sclerosis (PMID: 32211034). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1342*) 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 |
RCV000055216 | SCV000083435 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |