Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001852877 | SCV002245882 | pathogenic | Tuberous sclerosis 2 | 2021-08-09 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu847Cysfs*47) 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). This variant is not present in population databases (ExAC no frequency). This premature translational stop signal has been observed in individuals with tuberous sclerosis complex (PMID: 16981987, 18772611). This variant is also known as c.2538delC. ClinVar contains an entry for this variant (Variation ID: 49213). For these reasons, this variant has been classified as Pathogenic. |
Tuberous sclerosis database |
RCV000042471 | SCV000066262 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |