ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1141-2A>G (rs794728111)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181281 SCV000233571 pathogenic not provided 2014-02-04 criteria provided, single submitter clinical testing c.1141-2 A>G: IVS9-2 A>G in intron 9 of the DSP gene (NM_004415.2). Although the c.1141-2 A>G mutation has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge, this mutation destroys the canonical splice acceptor site in intron 9 and is predicted to cause abnormal gene splicing. The mutation is predicted to lead to either an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Other splice site mutations in the DSP gene have been reported in association with ARVC. In summary, c.1141-2 A>G in the DSP gene is interpreted as a disease-causing mutation. The variant is found in ARVC panel(s).

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