ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.*18C>T

dbSNP: rs1248039821
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
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital RCV000754386 SCV000786635 likely pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome 2018-04-01 criteria provided, single submitter research
Cole/Wambach Lab, Washington University in St. Louis RCV000754386 SCV000886481 likely pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome 2018-10-01 criteria provided, single submitter research
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV003488779 SCV004232660 uncertain significance Leukodystrophy 2024-01-23 criteria provided, single submitter curation The c.*18C>T variant in POLR3A has been reported in 3 individuals with POLR3A-related disorders (PMID: 30414627, 30323018) and has been identified in 0.003% (1/34592) of Latino/Admixed American chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP ID: rs1248039821). Although this variant has been seen in the general population in a heterozygous state, its frequency is low enough to be consistent with a recessive carrier frequency. This variant has also been reported in ClinVar (Variation ID#: 549564) and has been interpreted as pathogenic or likely pathogenic by OMIM, University of Washington Center for Mendelian Genomics (University of Washington), the Cole/Wambach Lab (Washington University in St. Louis), and the Tartaglia Lab (Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital). Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the c.*18C>T variant is uncertain. ACMG/AMP Criteria applied: PM2_supporting, BP4 (Richards 2015).
OMIM RCV000754386 SCV000883067 pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome 2022-05-24 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV000754386 SCV001479504 likely pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome no assertion criteria provided research

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.