ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4054A>T (p.Arg1352Ter) (rs794728121)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181318 SCV000233612 pathogenic not provided 2013-06-08 criteria provided, single submitter clinical testing The Arg1352Stop mutation in the DSP gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Arg1352Stop is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense mutations in the DSP gene have been reported in association with ARVC. The variant is found in ARVC panel(s).

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