Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001031305 | SCV001194611 | pathogenic | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | 2021-08-12 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 6 of the CYBA gene, which includes the termination codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product. A similar copy number variant has been observed in individual(s) with chronic granulomatous disease (PMID: 22924696, 31375816). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. The region of the CYBA gene that includes exon(s) exon 6 has been determined to be clinically significant (PMID: 19292887, 22924696, 30470980). Therefore, deletions that encompass that region are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |