Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000190007 | SCV000243679 | uncertain significance | not provided | 2021-09-08 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV001086210 | SCV000765776 | likely benign | Tuberous sclerosis 2 | 2023-12-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001016513 | SCV001177474 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-05-24 | criteria provided, single submitter | clinical testing | The p.N919S variant (also known as c.2756A>G), located in coding exon 24 of the TSC2 gene, results from an A to G substitution at nucleotide position 2756. The asparagine at codon 919 is replaced by serine, 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. |
Genome- |
RCV001086210 | SCV002039685 | likely benign | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing |