Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000694367 | SCV000822809 | uncertain significance | Tuberous sclerosis 2 | 2023-05-07 | criteria provided, single submitter | clinical testing | 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 572870). This variant has not been reported in the literature in individuals affected with TSC2-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.3867_3869del, results in the deletion of 1 amino acid(s) of the TSC2 protein (p.Arg1289del), but otherwise preserves the integrity of the reading frame. |
Ambry Genetics | RCV002352152 | SCV002620011 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-06-17 | criteria provided, single submitter | clinical testing | The c.3867_3869delGAG variant (also known as p.R1289del) is located in coding exon 31 of the TSC2 gene. This variant results from an in-frame GAG deletion at nucleotide positions 3867 to 3869. This results in the in-frame deletion of an arginine at codon 1289. This amino acid region is highly conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (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. |
Ce |
RCV003392529 | SCV004129847 | uncertain significance | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | TSC2: PM2, PM4:Supporting |