ClinVar Miner

Submissions for variant NM_000397.4(CYBB):c.45+6T>C

dbSNP: rs1569478551
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000011686 SCV004298946 pathogenic Granulomatous disease, chronic, X-linked 2023-03-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as 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 is associated with altered splicing resulting in some transcripts that retain intron 1 (PMID: 10828042). Studies have shown that this variant alters CYBB gene expression (PMID: 10828042). ClinVar contains an entry for this variant (Variation ID: 10939). This variant has been observed in individuals with chronic granulomatous disease (PMID: 9585602; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 1 of the CYBB gene. It does not directly change the encoded amino acid sequence of the CYBB protein. It affects a nucleotide within the consensus splice site.
OMIM RCV000011686 SCV000031918 pathogenic Granulomatous disease, chronic, X-linked 2000-06-01 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.