ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2602C>T (p.Gln868Ter) (rs1060500618)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000460155 SCV000543270 pathogenic Arrhythmogenic right ventricular cardiomyopathy, type 8 2016-12-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 868 (p.Gln868*) of the DSP gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in DSP are known to be pathogenic (PMID: 16061754, 20716751, 24503780). For these reasons, this variant has been classified as Pathogenic.

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