Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000697858 | SCV000826491 | benign | Adams-Oliver syndrome 5 | 2023-04-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002352169 | SCV002655211 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-04-03 | criteria provided, single submitter | clinical testing | The p.M2105V variant (also known as c.6313A>G), located in coding exon 34 of the NOTCH1 gene, results from an A to G substitution at nucleotide position 6313. The methionine at codon 2105 is replaced by valine, an amino acid with highly similar 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. |
Gene |
RCV003328621 | SCV004035364 | uncertain significance | not provided | 2023-03-13 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |