ClinVar Miner

Submissions for variant NM_000397.4(CYBB):c.483+5G>A

dbSNP: rs1929245964
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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 RCV001062503 SCV001227306 likely pathogenic Granulomatous disease, chronic, X-linked 2019-04-02 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. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 10089913). This variant has been observed in several individuals with clinical features of chronic granulomatous disease (PMID: 10089913, 20729109, Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 5 of the CYBB gene. It does not directly change the encoded amino acid sequence of the CYBB protein, but it affects a nucleotide within the consensus splice site of the intron.

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