Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000213113 | SCV000273930 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-12-21 | criteria provided, single submitter | clinical testing | The p.S6N variant (also known as c.17G>A), located in coding exon 1 of the TSC2 gene, results from a G to A substitution at nucleotide position 17. The serine at codon 6 is replaced by asparagine, an amino acid with highly similar properties. This alteration has been reported in an individual with autism spectrum disorder (Bahl S et al. Mol Autism, 2013 Mar;4:5). This amino acid position is highly 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 | RCV000537615 | SCV000644279 | benign | Tuberous sclerosis 2 | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000537615 | SCV002041034 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
MGZ Medical Genetics Center | RCV000537615 | SCV002581371 | uncertain significance | Tuberous sclerosis 2 | 2022-04-29 | criteria provided, single submitter | clinical testing |