Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001070084 | SCV001235294 | uncertain significance | Tuberous sclerosis 2 | 2023-08-31 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 863178). 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 0.007%). This sequence change affects codon 1689 of the TSC2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TSC2 protein. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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 | RCV002348482 | SCV002645926 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-09-30 | criteria provided, single submitter | clinical testing | The c.5067A>G variant (also known as p.K1689K), located in coding exon 38 of the TSC2 gene, results from an A to G substitution at nucleotide position 5067. This nucleotide substitution does not change the amino acid at codon 1689. However, this change occurs in the base pair of coding exon 38, which makes it likely to have some effect on normal mRNA splicing. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |