Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001223518 | SCV001395674 | likely benign | Tuberous sclerosis 1 | 2022-11-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002451523 | SCV002616962 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-11-13 | criteria provided, single submitter | clinical testing | The p.P1132S variant (also known as c.3394C>T), located in coding exon 21 of the TSC1 gene, results from a C to T substitution at nucleotide position 3394. The proline at codon 1132 is replaced by serine, an amino acid with 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, |
RCV002480737 | SCV002790409 | uncertain significance | Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II | 2021-09-14 | criteria provided, single submitter | clinical testing |