ClinVar Miner

Submissions for variant NM_000397.4(CYBB):c.483G>A (p.Lys161=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003042287 SCV003328928 likely pathogenic Granulomatous disease, chronic, X-linked 2022-03-12 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in skipping of exon 5 and introduces a premature termination codon (PMID: 34680870). The resulting mRNA is expected to undergo nonsense-mediated decay. This variant has been observed in individuals with chronic granulomatous disease (PMID: 34680870; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 161 of the CYBB mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CYBB protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product.

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