Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000693682 | SCV000821560 | benign | Tuberous sclerosis 2 | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001771961 | SCV002001239 | uncertain significance | not provided | 2023-07-21 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Genome- |
RCV000693682 | SCV002040896 | uncertain significance | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002343477 | SCV002646382 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-01-17 | criteria provided, single submitter | clinical testing | The p.Y1788D variant (also known as c.5362T>G), located in coding exon 41 of the TSC2 gene, results from a T to G substitution at nucleotide position 5362. The tyrosine at codon 1788 is replaced by aspartic acid, an amino acid with highly dissimilar properties. This amino acid position is conserved. 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. |