Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001012848 | SCV001173356 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-09-02 | criteria provided, single submitter | clinical testing | The p.T574I variant (also known as c.1721C>T), located in coding exon 13 of the TSC1 gene, results from a C to T substitution at nucleotide position 1721. The threonine at codon 574 is replaced by isoleucine, 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. |
Invitae | RCV001049618 | SCV001213677 | likely benign | Tuberous sclerosis 1 | 2023-11-16 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001049618 | SCV002041419 | uncertain significance | Tuberous sclerosis 1 | 2021-11-07 | criteria provided, single submitter | clinical testing |