Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostics Laboratory, |
RCV000761230 | SCV000891186 | likely pathogenic | Granulomatous disease, chronic, X-linked | 2017-06-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000761230 | SCV001584915 | pathogenic | Granulomatous disease, chronic, X-linked | 2020-10-24 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CYBB are known to be pathogenic (PMID: 9585602, 20729109). This variant has been observed in individual(s) with chronic granulomatous disease (PMID: 9585602, 20729109). This variant is also known as 1246 insertion G in the literature. ClinVar contains an entry for this variant (Variation ID: 623130). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val413Glyfs*18) in the CYBB gene. It is expected to result in an absent or disrupted protein product. |