Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001069395 | SCV001234559 | likely benign | Tuberous sclerosis 1 | 2022-11-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003307930 | SCV003993306 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-04-18 | criteria provided, single submitter | clinical testing | The p.A269D variant (also known as c.806C>A), located in coding exon 7 of the TSC1 gene, results from a C to A substitution at nucleotide position 806. The alanine at codon 269 is replaced by aspartic acid, an amino acid with dissimilar properties. This amino acid position is conserved. 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. |