ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1650G>A (p.Trp550Ter) (rs397516919)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494601 SCV000583259 likely pathogenic not provided 2016-08-22 criteria provided, single submitter clinical testing The W550X variant in the DSP gene has not been reported as a pathogenic variant or as a benign variant to our knowledge. W550X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other downstream nonsense variants in the DSP gene have been reported in HGMD in association with cardiomyopathy (Stenson et al., 2014). Furthermore, the W550X variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037998 SCV000061664 likely pathogenic Arrhythmogenic right ventricular cardiomyopathy 2009-10-09 no assertion criteria provided clinical testing

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