ClinVar Miner

Submissions for variant NM_000101.4(CYBA):c.287+2T>C

gnomAD frequency: 0.00001  dbSNP: rs747774702
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001240485 SCV001413431 pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2023-11-15 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 4 of the CYBA gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product. This variant is present in population databases (rs747774702, gnomAD 0.006%). Disruption of this splice site has been observed in individual(s) with clinical features of chronic granulomatous disease (PMID: 1415254, 20167518, 22924696, 27537055). ClinVar contains an entry for this variant (Variation ID: 965927). Studies have shown that disruption of this splice site alters CYBA gene expression (PMID: 1415254). Studies have shown that disruption of this splice site results in skipping of exon 4, but is expected to preserve the integrity of the reading-frame (PMID: 1415254). This variant disrupts the p.Arg90 amino acid residue in CYBA. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 10910929, 20167518). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001240485 SCV002797710 pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2022-03-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828951 SCV002089435 likely pathogenic Chronic granulomatous disease 2020-07-09 no assertion criteria provided clinical testing

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