ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.6543del (p.Phe2181fs)

dbSNP: rs1558564161
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
Invitae RCV001838098 SCV000818081 pathogenic Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-03-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 569699). This premature translational stop signal has been observed in individual(s) with clinical features of hypobetalipoproteinemia (PMID: 22095935). This variant is present in population databases (no rsID available, gnomAD 0.001%). This sequence change creates a premature translational stop signal (p.Phe2181Leufs*14) in the APOB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in APOB are known to be pathogenic (PMID: 20032471).
GeneDx RCV002473109 SCV002770114 likely pathogenic not provided 2022-06-21 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 22095935)

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.