ClinVar Miner

Submissions for variant NM_000101.4(CYBA):c.369+1G>A

gnomAD frequency: 0.00001  dbSNP: rs905944088
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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 RCV001377368 SCV001574688 likely pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2020-10-30 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). Studies have shown that this variant is associated with exon 5 skipping, which introduces a frameshift (PMID: 18422995). However the mRNA is not expected to undergo nonsense-mediated decay. Disruption of this splice site has been observed in individual(s) with chronic granulomatous disease (PMID: 18422995, 26915675). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 5 of the CYBA gene. RNA analysis indicates that this variant induces altered splicing and likely disrupts the C-terminus of the protein.
Revvity Omics, Revvity RCV001377368 SCV002023998 likely pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2020-06-23 criteria provided, single submitter clinical testing

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