ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.151C>T (p.Gln51Ter) (rs794728156)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181391 SCV000233693 pathogenic not provided 2012-02-10 criteria provided, single submitter clinical testing The Gln51Stop nonsense mutation in the DSP gene has not been previously published as a disease-causing mutation to our knowledge. Gln51Stop is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Numerous other nonsense mutations in the DSP gene have also been reported in association with ARVC. The variant is found in ARVC panel(s).

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