ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.5671_*1792delinsAGAGAAGAACAGTCTT

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000795578 SCV000935046 pathogenic Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 2018-12-13 criteria provided, single submitter clinical testing This variant, c.5666_*1792delins16, is a complex sequence change that results in the disruption of the last 981 amino acids of the DSP protein (p.Glu1891Argfs*17). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DSP-related conditions. This variant disrupts the C-terminus of the DSP protein. Other variants that disrupt this region (p.7901delG) have been determined to be pathogenic (PMID: 11063735). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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