ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.2653C>T (p.Gln885Ter) (rs1085307939)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489387 SCV000577694 likely pathogenic not provided 2015-07-09 criteria provided, single submitter clinical testing The Q885X variant in the POLR3A gene has not been reported previously as a disease-causing variant nor as a benign polymorphism. Specifically, this 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. The Q885X variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although the majority of pathogenic variants in POLR3A are missense changes, there are numerous other protein truncation variants reported in the Human Gene Mutation Database (Stenson et al., 2014). Therefore, Q885X variant is a strong candidate for a disease-causing variant

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