ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4395T>G (p.Tyr1465Ter) (rs1236464864)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000641777 SCV000763425 pathogenic Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2017-12-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr1465*) in the DSP gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variaant was reported in a family with  arrhythmogenic right ventricular dysplasia (PMID: 25820315). Loss-of-function variants in DSP are known to be pathogenic (PMID: 20716751, 24503780, 25227139). For these reasons, this variant has been classified as Pathogenic.
Heart Center,Academic Medical Center Amsterdam RCV000850012 SCV000992153 likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, type 9 2018-12-01 criteria provided, single submitter research

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