Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000644143 | SCV000765833 | benign | Tuberous sclerosis 2 | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002331187 | SCV002638843 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-05-25 | criteria provided, single submitter | clinical testing | The p.N1488S variant (also known as c.4463A>G), located in coding exon 33 of the TSC2 gene, results from an A to G substitution at nucleotide position 4463. The asparagine at codon 1488 is replaced by serine, an amino acid with highly 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. |