Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Division of Genomic Medicine, |
RCV001250764 | SCV001425609 | pathogenic | Tuberous sclerosis 2 | 2020-07-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001250764 | SCV003338042 | pathogenic | Tuberous sclerosis 2 | 2022-03-26 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 65159). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with TSC2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr1077Asnfs*93) 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 |
RCV000055375 | SCV000083596 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |