ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.6850C>T (p.Arg2284Ter) (rs794728130)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181344 SCV000233641 pathogenic not provided 2018-04-11 criteria provided, single submitter clinical testing The R2284X variant in the DSP gene has been reported previously in association with ARVC and Carvajal syndrome (Fressart et el., 2011; Antonov et al., 2015). This variant is predicted to cause loss of normal protein function through protein truncation. The R2284X variant is not observed in large population cohorts (Lek et al., 2016). In summary, we interpret R2284X as a pathogenic variant.

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