Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000705751 | SCV000834764 | benign | Tuberous sclerosis 2 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003303190 | SCV003998269 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-03-25 | criteria provided, single submitter | clinical testing | The p.M276T variant (also known as c.827T>C), located in coding exon 8 of the TSC2 gene, results from a T to C substitution at nucleotide position 827. The methionine at codon 276 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. 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. |