Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000201021 | SCV000255917 | pathogenic | Tuberous sclerosis 2 | 2013-06-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000201021 | SCV001417430 | pathogenic | Tuberous sclerosis 2 | 2019-11-12 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). 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: 10735580). It is also known as 570insA in the literature. ClinVar contains an entry for this variant (Variation ID: 50038). This sequence change creates a premature translational stop signal (p.Tyr190*) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. |
Genome- |
RCV000201021 | SCV002040917 | pathogenic | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Tuberous sclerosis database |
RCV000043304 | SCV000067110 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |