ClinVar Miner

Submissions for variant NM_181457.4(PAX3):c.784C>T (p.Arg262Ter) (rs886041319)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000315662 SCV000329710 pathogenic not provided 2018-10-29 criteria provided, single submitter clinical testing The R262X variant in the PAX3 gene has been reported previously in multiple individuals with Waardenburg syndrome type 1 (Wildhardt et al., 2013; Jalilian et al., 2015). It has also been confirmed at GeneDx to have occurred de novo in an affected patient. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is not observed in large population cohorts (Lek et al., 2016). We consider this variant to be pathogenic.
Center for Human Genetics, Inc RCV000660215 SCV000782215 pathogenic Waardenburg syndrome type 1 2016-11-01 criteria provided, single submitter clinical testing

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