ClinVar Miner

Submissions for variant NM_007055.4(POLR3A):c.2119C>T (p.Gln707Ter) (rs780839834)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494591 SCV000583024 likely pathogenic not provided 2015-11-28 criteria provided, single submitter clinical testing The Q707X 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 cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q707X 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. Protein truncating pathogenic variants downstream of this variant have been reported in the Human Gene Mutation Database in association with POLR3A-related disorders (Stenson et al., 2014), supporting the pathogenicity of more upstream truncating variants. We interpret Q707X as a likely pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded
MyeliNeuroGene Lab,McGill University Health Center Research Institute RCV000845267 SCV000987272 pathogenic Hypomyelinating leukodystrophy 7 criteria provided, single submitter research

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