Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000701433 | SCV000830234 | pathogenic | Tuberous sclerosis 2 | 2018-02-08 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser1482Glufs*42) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. 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 reported in the literature in an individual affected with tuberous sclerosis complex (PMID: 16981987). This variant is also known as c.4440dupA in the literature. ClinVar contains an entry for this variant (Variation ID: 49298). |
Tuberous sclerosis database |
RCV000042557 | SCV000066351 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |