Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001211580 | SCV001383125 | pathogenic | Tuberous sclerosis 2 | 2022-12-06 | 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: 50080). This premature translational stop signal has been observed in individual(s) with tuberous sclerosis complex (PMID: 9829910). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln864*) 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). |
Mayo Clinic Laboratories, |
RCV002247427 | SCV002520055 | pathogenic | not provided | 2021-04-05 | criteria provided, single submitter | clinical testing | PVS1, PM2, PM6, PP4 |
Tuberous sclerosis database |
RCV000043346 | SCV000067152 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |