Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000201116 | SCV000255907 | pathogenic | Tuberous sclerosis 2 | 2014-06-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000201116 | SCV000644580 | pathogenic | Tuberous sclerosis 2 | 2017-05-25 | 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.Phe1645Cysfs*7) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. This variant has been reported to segregate with tuberous sclerosis in 2 families (PMID: 9452050). It has also been reported as de novo in individuals affected with tuberous sclerosis and Wilms tumor (PMID: 21567926, 9452050), but paternity was not confirmed in these individuals. This variant is also known as 4882delTT in the literature. ClinVar contains an entry for this variant (Variation ID: 49981). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). |
Center for Human Genetics, |
RCV000201116 | SCV000808051 | pathogenic | Tuberous sclerosis 2 | 2018-06-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000201116 | SCV002041007 | pathogenic | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Tuberous sclerosis database |
RCV000043248 | SCV000067049 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |