Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001044637 | SCV001208442 | uncertain significance | Tuberous sclerosis 2 | 2023-02-04 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 842248). This variant, c.3340_3351del, results in the deletion of 4 amino acid(s) of the TSC2 protein (p.Ser1114_Gly1117del), 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. 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 | RCV002320259 | SCV002605876 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-09-20 | criteria provided, single submitter | clinical testing | The c.3340_3351del12 variant (also known as p.S1114_G1117del) is located in coding exon 28 of the TSC2 gene. This variant results from an in-frame TCCCAGGCTGGG deletion at nucleotide positions 3340 to 3351. This results in the in-frame deletion of a at codon 1114. This amino acid region is not well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |