Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000483151 | SCV000569925 | uncertain significance | not provided | 2016-04-20 | criteria provided, single submitter | clinical testing | The c.225_245del21 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 6,000 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 c.225_245del21 variant results in an in-frame deletion of 7 amino acid residues, denoted p.Leu76_Leu82del. Additionally, other in-frame deletions in nearby residues have been reported in the Human Gene Mutation Database in association with ABCD1-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. |