Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000644161 | SCV000765851 | benign | Tuberous sclerosis 2 | 2023-07-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002334132 | SCV002643121 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-12-10 | criteria provided, single submitter | clinical testing | The p.H1726Y variant (also known as c.5176C>T), located in coding exon 40 of the TSC2 gene, results from a C to T substitution at nucleotide position 5176. The histidine at codon 1726 is replaced by tyrosine, an amino acid with 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. |