ClinVar Miner

Submissions for variant NM_000433.4(NCF2):c.304C>T (p.Arg102Ter)

gnomAD frequency: 0.00002  dbSNP: rs374402066
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 RCV000002329 SCV003523934 pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 2024-01-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg102*) in the NCF2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NCF2 are known to be pathogenic (PMID: 10498624, 20167518). This variant is present in population databases (rs374402066, gnomAD 0.008%). This premature translational stop signal has been observed in individual(s) with chronic granulomatous disease (PMID: 10498624). ClinVar contains an entry for this variant (Variation ID: 2241). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000002329 SCV000022487 pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 1999-10-01 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.