ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.2617-1G>A (rs181087667)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000384524 SCV000329966 pathogenic not provided 2017-11-10 criteria provided, single submitter clinical testing The c.2617-1G>A variant in the POLR3A gene has been reported previously in the compound heterozygous state in two unrelated individuals with with hypomyelinating leukodystrophy (Bernard et al., 2011). This splice site variant destroys the canonical splice acceptor site in intron 19. It is predicted to cause abnormal gene splicing, resulting in an in-frame protein product with an abnormal message. The c.2617-1G>A variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.2617-1G>A as a pathogenic variant.
Tartaglia Lab, Genetics and Rare Diseases Research Division,Bambino Gesu' Children's Hospital RCV000754391 SCV000786642 likely pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome 2018-05-01 criteria provided, single submitter research
Cole/Wambach Lab,Washington University in St. Louis RCV000754391 SCV000886479 pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome 2018-10-01 criteria provided, single submitter research
OMIM RCV000024142 SCV000045433 pathogenic Hypomyelinating leukodystrophy 7 2011-09-09 no assertion criteria provided literature only
GeneReviews RCV000024142 SCV000055887 pathologic Hypomyelinating leukodystrophy 7 2012-08-02 no assertion criteria provided curation Converted during submission to 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.