ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.250C>T (p.Arg84Ter) (rs768521444)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522261 SCV000619879 pathogenic not provided 2017-08-17 criteria provided, single submitter clinical testing The R84X variant in the DSP gene has not been reported as a pathogenic or benign to our knowledge. This variant is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense variants in the DSP gene have been reported in Human Gene Mutation Database in association with ARVC (Stenson et al., 2014). Furthermore, the R84X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).

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