ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.865C>T (p.Gln289Ter) (rs121907999)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000004068 SCV000220805 likely pathogenic Wilson disease 2014-10-15 criteria provided, single submitter literature only
GeneDx RCV000421016 SCV000520886 pathogenic not provided 2016-12-30 criteria provided, single submitter clinical testing The Q289X nonsense variant in the ATP7B gene has been reported to be a common pathogenic variant in the Greek population and has been reported with severe, early-onset Wilson disease (Waldenström et al., 1996; Panagiotakaki et al., 2004; Manolaki et al., 2009; Behari et al., 2010). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000421016 SCV000610993 likely pathogenic not provided 2017-05-01 criteria provided, single submitter clinical testing
OMIM RCV000004068 SCV000024234 pathogenic Wilson disease 2005-05-01 no assertion criteria provided literature only

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