ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4026G>A (p.Trp1342Ter) (rs1561698345)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760688 SCV000890580 likely pathogenic not provided 2018-08-03 criteria provided, single submitter clinical testing The W1342X variant in the DSP gene has not been published as pathogenic or reported as benign to our knowledge. W1342X 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 and other DSP-related conditions (Stenson et al., 2014). Furthermore, the W1342X variant is not observed in large population cohorts (Lek et al., 2016).

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