Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000519806 | SCV000621884 | uncertain significance | not provided | 2018-05-18 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the TSC2 gene. The c.2966+15 G>A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.2966+15 G>A variant is observed in 1/17232 (0.01%) alleles from individuals of East Asian background, in large population cohorts (Lek et al., 2016). Several in-silico splice prediction models predict that c.2966+15 G>A 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 in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
Invitae | RCV002060284 | SCV002477728 | likely benign | Tuberous sclerosis 2 | 2024-01-10 | criteria provided, single submitter | clinical testing |