Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000644146 | SCV000765836 | benign | Tuberous sclerosis 2 | 2023-10-12 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV002282288 | SCV002571495 | uncertain significance | not provided | 2022-09-08 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
| Ambry Genetics | RCV002424465 | SCV002731910 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-08-28 | criteria provided, single submitter | clinical testing | The p.E366Q variant (also known as c.1096G>C), located in coding exon 10 of the TSC2 gene, results from a G to C substitution at nucleotide position 1096. The glutamic acid at codon 366 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear. |
| Fulgent Genetics, |
RCV002483858 | SCV002791662 | uncertain significance | Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 | 2022-04-21 | criteria provided, single submitter | clinical testing | |
| All of Us Research Program, |
RCV004004001 | SCV004817073 | uncertain significance | Tuberous sclerosis syndrome | 2023-11-30 | criteria provided, single submitter | clinical testing | This missense variant replaces glutamic acid with glutamine at codon 366 of the TSC2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with tuberous sclerosis complex in the literature. This variant has been identified in 1/250732 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |