Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000570293 | SCV000675626 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-06-07 | criteria provided, single submitter | clinical testing | The p.K34R variant (also known as c.101A>G), located in coding exon 1 of the TSC2 gene, results from an A to G substitution at nucleotide position 101. The lysine at codon 34 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and arginine is the reference amino acid in other 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 | RCV002530345 | SCV003447390 | benign | Tuberous sclerosis 2 | 2023-03-26 | criteria provided, single submitter | clinical testing |