ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1268A>G (p.Asn423Ser)

dbSNP: rs1830431553
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV001262090 SCV001439482 likely pathogenic Telangiectasia, hereditary hemorrhagic, type 1 2018-01-01 criteria provided, single submitter research PM2+PP3+PP4
GeneDx RCV001785803 SCV002027857 uncertain significance not provided 2021-05-20 criteria provided, single submitter clinical testing Observed in an individual with pulmonary arterial hypertension (Song et al., 2016); Not observed in large population cohorts (Lek et al., 2016); Published functional studies demonstrate subcellular localization of the endoglin protein similar to wild type (Ali et al., 2011); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22022569, 27613157)
Genetic Services Laboratory, University of Chicago RCV001819966 SCV002069128 uncertain significance not specified 2018-04-03 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV003405470 SCV004112060 uncertain significance ENG-related condition 2023-04-27 criteria provided, single submitter clinical testing The ENG c.1268A>G variant is predicted to result in the amino acid substitution p.Asn423Ser. This variant was reported in an individual with pulmonary arterial hypertension (Song et al. 2016. PubMed ID: 27613157) and in an individual with hereditary hemorrhagic telangiectasia (HHT) (Kitayama et al. 2021. PubMed ID: 34872578). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant has conflicting interpretations in ClinVar ranging from uncertain to likely pathogenic (https://www.ncbi.nlm.nih.gov/clinvar/variation/982495/). Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.