ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.888C>G (p.Tyr296Ter) (rs149701627)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181280 SCV000233570 pathogenic not provided 2013-11-26 criteria provided, single submitter clinical testing p.Tyr296Stop (TAC>TAG): c.888 C>G in exon 7 of the DSP gene (NM_004415.2). The Tyr296Stop mutation in the DSP gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Tyr296Stop 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 and related disorders. In summary, Tyr296Stop in the DSP gene is interpreted as a disease-causing mutation. The variant is found in ARRHYTHMIA panel(s).

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