Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000190088 | SCV000243763 | uncertain significance | not specified | 2014-09-24 | criteria provided, single submitter | clinical testing | c.4005+4_4005+7dupAGTG: IVS33+4_IVS33+7dupAGTG in intron 33 of the TSC2 gene (NM_000548.3) c.4005+4_4005+7dupAGTG variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The c.4005+4_4005+7dupAGTG variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Several in-silico splice prediction models predict that c.4005+4_4005+7dupAGTG creates a cryptic donor site which may supplant the natural donor site and lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in EPILEPSY panel(s). |
Invitae | RCV001409923 | SCV001611959 | likely benign | Tuberous sclerosis 2 | 2023-08-19 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001409923 | SCV002039806 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003468876 | SCV004205100 | uncertain significance | Isolated focal cortical dysplasia type II | 2023-05-05 | criteria provided, single submitter | clinical testing |