ClinVar Miner

Submissions for variant NM_000397.4(CYBB):c.1237dup (p.Val413fs)

dbSNP: rs1569480031
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 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.

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