Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000521436 | SCV000617389 | likely pathogenic | not provided | 2017-07-24 | criteria provided, single submitter | clinical testing | The W679X variant in the ABCD1 gene has been previously reported in two heterozygous females who presented with symptoms of X-linked adrenoleukodystrophy (Habekost et al., 2014), and in an asymptomatic 23 year old male who was diagnosed with X-linked adrenoleukodystrophy by VLCFA analysis (Pereira et al., 2012). The W679X variant is predicted to cause loss of normal protein function through protein truncation, as the last 67 amino acids of the protein are lost. Additionally, this variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Therefore, GeneDx interprets W679X as a likely pathogenic variant. |