ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.5800C>T (p.Arg1934Ter) (rs121912996)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578822 SCV000680619 likely pathogenic not provided 2017-01-17 criteria provided, single submitter clinical testing The R1934X variant in the DSP gene has been published previously as a pathogenic variant in the compound heterozygous state with a second pathogenic variant in a patient with autosomal recessive lethal acantholytic epidermolysis bullosa (Jonkman et al., 2005). However, heterozygous nonsense variants in the DSP gene, including one in a nearby residue (Q1925X), are also known to be pathogenic in association with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) (Stenson et al., 2014). Based on the ACMG recommendations, R1934X is interpreted as an expected pathogenic sequence change for ARVC.
OMIM RCV000018337 SCV000038616 pathogenic Epidermolysis bullosa, lethal acantholytic 2005-10-01 no assertion criteria provided literature only

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