Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000698725 | SCV000827406 | benign | Tuberous sclerosis 2 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002259006 | SCV002530982 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-05-02 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV002259006 | SCV002704736 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-10-06 | criteria provided, single submitter | clinical testing | The p.Y553C variant (also known as c.1658A>G), located in coding exon 15 of the TSC2 gene, results from an A to G substitution at nucleotide position 1658. The tyrosine at codon 553 is replaced by cysteine, an amino acid with highly dissimilar 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. |