Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000820777 | SCV000961504 | uncertain significance | Tuberous sclerosis 2 | 2023-04-24 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 1272 of the TSC2 protein (p.Val1272Gly). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 663001). This variant has not been reported in the literature in individuals affected with TSC2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). |
| Ambry Genetics | RCV003169012 | SCV003865901 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-12-18 | criteria provided, single submitter | clinical testing | The p.V1272G variant (also known as c.3815T>G) is located in coding exon 31 of the TSC2 gene. The valine at codon 1272 is replaced by glycine, an amino acid with dissimilar properties. This change occurs in the first base pair of coding exon 31. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |