ClinVar Miner

Submissions for variant NM_173076.3(ABCA12):c.2296C>T (p.Gln766Ter)

dbSNP: rs772046102
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
GeneDx RCV000578837 SCV000681109 likely pathogenic not provided 2017-11-15 criteria provided, single submitter clinical testing The Q766X variant in the ABCA12 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q766X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Q766X as a likely pathogenic variant.
Invitae RCV000578837 SCV004482921 pathogenic not provided 2023-02-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln766*) in the ABCA12 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCA12 are known to be pathogenic (PMID: 20672373). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ABCA12-related conditions. ClinVar contains an entry for this variant (Variation ID: 489123). For these reasons, this variant has been classified as Pathogenic.

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.