Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001021252 | SCV001182844 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-07-24 | criteria provided, single submitter | clinical testing | The p.Y1279H variant (also known as c.3835T>C), located in coding exon 31 of the TSC2 gene, results from a T to C substitution at nucleotide position 3835. The tyrosine at codon 1279 is replaced by histidine, 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 | RCV001046033 | SCV001209915 | benign | Tuberous sclerosis 2 | 2023-11-07 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001046033 | SCV002040792 | uncertain significance | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing |