ClinVar Miner

Submissions for variant NM_000397.4(CYBB):c.46-2A>T

dbSNP: rs2146803092
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001387618 SCV001588290 pathogenic Granulomatous disease, chronic, X-linked 2020-02-27 criteria provided, single submitter clinical testing Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CYBB are known to be pathogenic (PMID: 9585602, 20729109). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Variants at this acceptor site have been observed in individual(s) with chronic granulomatous disease(PMID: 11162142, 1520880). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 1 of the CYBB gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic.
GenomeConnect - Invitae Patient Insights Network RCV001387618 SCV001749843 not provided Granulomatous disease, chronic, X-linked no assertion provided phenotyping only Variant interpreted as Pathogenic and reported on 03-08-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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