ClinVar Miner

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

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000612818 SCV000731637 likely pathogenic Arrhythmogenic right ventricular cardiomyopathy 2017-07-17 criteria provided, single submitter clinical testing The c.1141-2A>T variant in DSP has not been previously reported in individuals w ith cardiomyopathy or in large population studies. This variant occurs in the in variant region (+/- 1,2) of the splice consensus sequence and is predicted to ca use altered splicing leading to an abnormal or absent protein, which is common a mong disease causing DSP variants. In summary, although additional studies are required to fully establish its clinical significance, the c.1141-2A>T variant i s likely pathogenic.

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