Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001388102 | SCV001588961 | pathogenic | Tuberous sclerosis 2 | 2020-06-04 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). This variant has been observed in individual(s) with tuberous sclerosis complex (PMID: 16981987). ClinVar contains an entry for this variant (Variation ID: 49147). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu409Glyfs*10) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. |
Tuberous sclerosis database |
RCV000042402 | SCV000066192 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |