Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000458532 | SCV000544320 | benign | Tuberous sclerosis 2 | 2023-11-29 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000500804 | SCV000597596 | uncertain significance | not specified | 2015-08-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001022474 | SCV001184217 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-05-17 | criteria provided, single submitter | clinical testing | The p.A1479T variant (also known as c.4435G>A), located in coding exon 33 of the TSC2 gene, results from a G to A substitution at nucleotide position 4435. The alanine at codon 1479 is replaced by threonine, an amino acid with similar properties. This amino acid position is poorly 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. |
Genome- |
RCV000458532 | SCV002040196 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing |