Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000698973 | SCV000827664 | likely benign | Tuberous sclerosis 2 | 2022-09-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001771980 | SCV001994666 | uncertain significance | not provided | 2019-03-26 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
Genome- |
RCV000698973 | SCV002040865 | uncertain significance | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002334340 | SCV002641798 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-07-29 | criteria provided, single submitter | clinical testing | The p.D1677N variant (also known as c.5029G>A), located in coding exon 38 of the TSC2 gene, results from a G to A substitution at nucleotide position 5029. The aspartic acid at codon 1677 is replaced by asparagine, an amino acid with highly similar properties. 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. |