Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000824443 | SCV000965341 | uncertain significance | Tuberous sclerosis 2 | 2023-11-01 | criteria provided, single submitter | clinical testing | This variant, c.3377_3382dup, results in the insertion of 2 amino acid(s) of the TSC2 protein (p.Asp1126_Arg1127dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TSC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 666037). 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. |
Ambry Genetics | RCV003307566 | SCV003988649 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-04-13 | criteria provided, single submitter | clinical testing | The c.3377_3382dupATCGGG variant (also known as p.D1126_R1127dup), located in coding exon 28 of the TSC2 gene, results from an in-frame duplication of ATCGGG at nucleotide positions 3377 to 3382. This results in the duplication of 2 extra residues (DR) between codons 1126 and 1127. This amino acid region is highly conserved through mammals. In addition, the in silico prediction for this alteration is inconclusive (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |