Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000494580 | SCV000582027 | uncertain significance | not provided | 2017-05-02 | criteria provided, single submitter | clinical testing | The V82M variant of uncertain significance in the NOTCH1 gene has not been published as pathogenic or been reported as benign to our knowledge. V82M is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The V82M variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Moreover, this substitution occurs at a position that is not conserved, where M82 is the wild-type residue in at least two species. In silico analysis predicts this variant likely does not alter the protein structure/function. |
Invitae | RCV000701769 | SCV000830585 | benign | Adams-Oliver syndrome 5 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000701769 | SCV002554021 | uncertain significance | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270589 | SCV002554022 | uncertain significance | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002431437 | SCV002731555 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2021-07-18 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |