Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000552414 | SCV000644621 | uncertain significance | Tuberous sclerosis 2 | 2017-03-11 | criteria provided, single submitter | clinical testing | This sequence change inserts 3 nucleotides in exon 41 of the TSC2 mRNA (c.5240_5242dupTCA). This leads to the insertion of 1 amino acid residue in the TSC2 protein (p.Ile1747dup) but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a TSC2-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acid is currently unknown. In summary, this is a novel in-frame duplication with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. |