Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001033564 | SCV001196871 | uncertain significance | Tuberous sclerosis 1 | 2021-09-14 | criteria provided, single submitter | clinical testing | This variant is a complex rearrangement that results in the inversion of approximately 1.2 Mb and the insertion of two nucleotides (chr9:g.135771850_137038881inv_insAT). The 5' end of this event extends beyond the assayed region for this gene and may encompass additional genes. The 3' end is in exon 23. This variant has not been reported in the literature in individuals affected with TSC1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |