ClinVar Miner

Submissions for variant NM_020247.5(COQ8A):c.1228C>T (p.Arg410Ter) (rs753254213)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427838 SCV000517231 pathogenic not provided 2015-06-15 criteria provided, single submitter clinical testing The R410X nonsense variant in the ADCK3 gene has been reported previously in association withautosomal recessive cerebellar ataxia 2 (Mignot et al. 2013). This variant is predicted to cause loss ofnormal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, we interpret R410X as a pathogenic variant.
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001527640 SCV001738752 uncertain significance Global developmental delay 2020-01-01 no assertion criteria provided clinical testing

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