Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000497968 | SCV000589807 | likely pathogenic | not provided | 2016-03-22 | criteria provided, single submitter | clinical testing | The V15A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The V15A variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations, nor was V15A present in the Exome Aggregation Consortium (ExAC) database. The V15A substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. In summary, we interpret this variant as likely pathogenic; however, the possibility that it is benign cannot be excluded. |