Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001010887 | SCV001171143 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-07-16 | criteria provided, single submitter | clinical testing | The p.A437P variant (also known as c.1309G>C), located in coding exon 12 of the TSC2 gene, results from a G to C substitution at nucleotide position 1309. The alanine at codon 437 is replaced by proline, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV001062574 | SCV001227385 | benign | Tuberous sclerosis 2 | 2023-12-26 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001062574 | SCV002040601 | uncertain significance | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Ai |
RCV002223966 | SCV002503526 | uncertain significance | not provided | 2020-11-05 | criteria provided, single submitter | clinical testing |