ClinVar Miner

Submissions for variant NM_000101.4(CYBA):c.261C>G (p.Tyr87Ter)

dbSNP: rs779809359
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788440 SCV000927555 pathogenic not provided 2018-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001384756 SCV001584401 pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2024-11-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr87*) in the CYBA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CYBA are known to be pathogenic (PMID: 10910929, 20167518, 22876374). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with chronic granulomatous disease (PMID: 20167518). ClinVar contains an entry for this variant (Variation ID: 636575). For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV001830682 SCV002089437 pathogenic Chronic granulomatous disease 2020-09-28 no assertion criteria provided clinical testing

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