Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001048168 | SCV001212158 | likely pathogenic | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | 2019-02-04 | criteria provided, single submitter | clinical testing | This variant is a deletion of the genomic region encompassing exons 4 and 5, as well as part of exon 6 (c.203+101_403delinsGCCTCCA) of the CYBA gene. While this is not anticipated to result in nonsense mediated decay, it is expected to result in a truncated protein product. This variant has not been reported in the literature in individuals with CYBA-related conditions. This partial exon deletion disrupts, among other residues, the p.Arg90 amino acid residue in exon 4 of CYBA. Other variant(s) that disrupt the p.Arg90 residue have been observed in individuals with CYBA-related conditions (PMID: 10910929, 20167518), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |