Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000696912 | SCV000825493 | uncertain significance | Tuberous sclerosis 2 | 2023-05-04 | 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TSC2 protein function. ClinVar contains an entry for this variant (Variation ID: 574864). 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 sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1782 of the TSC2 protein (p.Ala1782Ser). |
Ambry Genetics | RCV002343495 | SCV002647067 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-09-02 | criteria provided, single submitter | clinical testing | The p.A1782S variant (also known as c.5344G>T), located in coding exon 41 of the TSC2 gene, results from a G to T substitution at nucleotide position 5344. The alanine at codon 1782 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV002477587 | SCV002783570 | uncertain significance | Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 | 2022-05-09 | criteria provided, single submitter | clinical testing |