Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000644199 | SCV000765889 | benign | Tuberous sclerosis 2 | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002358833 | SCV002621507 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-05-20 | criteria provided, single submitter | clinical testing | The p.Q1284R variant (also known as c.3851A>G), located in coding exon 31 of the TSC2 gene, results from an A to G substitution at nucleotide position 3851. The glutamine at codon 1284 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is not well 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. |
Fulgent Genetics, |
RCV002493023 | SCV002803984 | uncertain significance | Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 | 2021-12-16 | criteria provided, single submitter | clinical testing |