Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000226639 | SCV000284689 | likely benign | Tuberous sclerosis 1 | 2023-09-17 | criteria provided, single submitter | clinical testing | |
| Sema4, |
RCV002256018 | SCV002530953 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-05-21 | criteria provided, single submitter | curation | |
| Ambry Genetics | RCV002256018 | SCV002723029 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-01-03 | criteria provided, single submitter | clinical testing | The p.G680E variant (also known as c.2039G>A), located in coding exon 14 of the TSC1 gene, results from a G to A substitution at nucleotide position 2039. The glycine at codon 680 is replaced by glutamic acid, an amino acid with similar properties. This alteration, designated as DNA change G2260A (protein change: G680E), was detected with an allele frequency of 0.6% in a cohort of 79 patients satisfying established diagnostic criteria for tuberous sclerosis. The alteration is described as a non-pathogenic polymorphism by study authors (Young JM et al. Ann. Hum. Genet., 1998 May;62:203-13). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| All of Us Research Program, |
RCV000042127 | SCV004828604 | uncertain significance | Tuberous sclerosis syndrome | 2023-09-09 | criteria provided, single submitter | clinical testing | |
| Tuberous sclerosis database |
RCV000042127 | SCV000065912 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |