Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003064692 | SCV003445063 | pathogenic | Granulomatous disease, chronic, X-linked | 2022-06-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant is also known as deltaG52, Val14>f.s.. This premature translational stop signal has been observed in individual(s) with chronic granulomatous disease (PMID: 9794433). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val14Serfs*8) in the CYBB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CYBB are known to be pathogenic (PMID: 9585602, 20729109). |