Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000231211 | SCV000285240 | likely benign | Tuberous sclerosis 2 | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000765262 | SCV000896515 | uncertain significance | Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001011245 | SCV001171544 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-10-31 | criteria provided, single submitter | clinical testing | The p.R458Q variant (also known as c.1373G>A), located in coding exon 13 of the TSC2 gene, results from a G to A substitution at nucleotide position 1373. The arginine at codon 458 is replaced by glutamine, an amino acid with highly similar properties. This alteration has been observed in one individual from a cohort of patients with Cowden/Cowden-like (CS/CS-like) and Bannayan-Riley-Ruvalcaba syndromes (BRRS) without PTEN mutations (Yehia L et al. PLoS Genet, 2018 04;14:e1007352). This amino acid position is highly 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. |
Gene |
RCV001589172 | SCV001822580 | uncertain significance | not provided | 2021-04-20 | 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; This variant is associated with the following publications: (PMID: 27994516) |
Genome- |
RCV000231211 | SCV002039545 | uncertain significance | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000231211 | SCV003821604 | uncertain significance | Tuberous sclerosis 2 | 2019-05-01 | criteria provided, single submitter | clinical testing |