Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000483945 | SCV000568978 | uncertain significance | not provided | 2015-12-04 | criteria provided, single submitter | clinical testing | The c.2277-4 T>C variant has not beenpublished as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.2277-4 T>Cvariant was not observed in approximately 6,500 individuals of European and African American ancestry in theNHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Severalin-silico splice prediction models predict that c.2277-4 T>C does not impact gene splicing. However, in the absenceof RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Additionally, thissubstitution occurs at a position that is conserved across species. Therefore, based on the currently availableinformation, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |