Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001852900 | SCV002238656 | pathogenic | Tuberous sclerosis 2 | 2021-07-28 | 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: 49926). This premature translational stop signal has been observed in individual(s) with tuberous Sclerosis (PMID: 11112665). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu1480*) 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 |
RCV000043193 | SCV000066994 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |