Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000542292 | SCV000644388 | uncertain significance | Tuberous sclerosis 2 | 2021-02-02 | criteria provided, single submitter | clinical testing | In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. This sequence change replaces serine with alanine at codon 960 of the TSC2 protein (p.Ser960Ala). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and alanine. |
Ambry Genetics | RCV002438417 | SCV002747709 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-05-18 | criteria provided, single submitter | clinical testing | The p.S960A variant (also known as c.2878T>G), located in coding exon 25 of the TSC2 gene, results from a T to G substitution at nucleotide position 2878. The serine at codon 960 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. 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. |