Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000481490 | SCV000566040 | uncertain significance | not provided | 2016-08-04 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the CHRNA4 gene. The Q432X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The Q432X nonsense variant in the CHRNA4 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. However, loss of function variants in the CHRNA4 gene have not been reported in the Human Gene Mutation Database in association with CHRNA4-related disorders (Stenson et al., 2014). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |