ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.3337-5T>A (rs368905417)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498819 SCV000590341 likely pathogenic not provided 2017-06-06 criteria provided, single submitter clinical testing The c.3337-5T>A variant in the POLR3A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to damage the natural splice acceptor site in intron 25, which may cause abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. The c.3337-5T>A variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.3337-5T>A as a likely pathogenic variant.
Cole/Wambach Lab,Washington University in St. Louis RCV000755669 SCV000886473 pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome 2018-10-01 criteria provided, single submitter research
OMIM RCV000755669 SCV000883071 pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome 2015-08-01 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV001291254 SCV001479679 likely pathogenic Wiedemann-Rautenstrauch-like progeroid syndrome no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000755669 SCV001479783 likely pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome no assertion criteria provided research

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