ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.2005C>T (p.Arg669Ter)

gnomAD frequency: 0.00001  dbSNP: rs774007232
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cole/Wambach Lab,Washington University in St. Louis RCV000755668 SCV000886475 pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome 2018-10-01 criteria provided, single submitter research
GeneDx RCV000760689 SCV000890581 pathogenic not provided 2018-08-20 criteria provided, single submitter clinical testing The R669X nonsense variant in the POLR3A gene has not been published as a pathogenic variant, nor has it been reported 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. Furthermore, the R669X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret R669X as a pathogenic variant.
Invitae RCV000760689 SCV001397179 pathogenic not provided 2021-09-15 criteria provided, single submitter clinical testing
Kasturba Medical College, Manipal, Manipal Academy of Higher Education RCV000755668 SCV001478355 pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome 2019-05-12 criteria provided, single submitter clinical testing
OMIM RCV000755668 SCV000883070 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 RCV000755668 SCV001479498 likely pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome no assertion criteria provided research
Genomics England Pilot Project,Genomics England RCV001542770 SCV001760258 likely pathogenic Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome no assertion criteria provided clinical testing

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