ClinVar Miner

Submissions for variant NM_000433.4(NCF2):c.609+1G>A

dbSNP: rs2102903043
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002043024 SCV002301757 likely pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 2022-11-08 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with NCF2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 5 of the NCF2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in NCF2 are known to be pathogenic (PMID: 10498624, 20167518). ClinVar contains an entry for this variant (Variation ID: 1510296). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site.

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.