ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.3630T>A (p.Tyr1210Ter) (rs727503001)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150567 SCV000197819 likely pathogenic Primary dilated cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy 2013-08-16 criteria provided, single submitter clinical testing The Tyr1210X variant in DSP has not been reported in individuals with cardiomyop athy or in large population studies. This nonsense variant leads to a premature termination codon at position 1210, which is predicted to lead to a truncated or absent protein. Frameshift and nonsense variants in DSP have been reported in p atients with ARVC (http://arvcdatabase.info/) and DCM (Elliott 2010, Garcia-Pavi a 2011). In summary, this variant is likely to be pathogenic, though additional studies are required to fully establish its clinical significance.
GeneDx RCV000181312 SCV000233605 pathogenic not provided 2015-04-29 criteria provided, single submitter clinical testing The Tyr1210Stop mutation in the DSP gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Tyr1210Stop 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. The variant is found in DSP panel(s).

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