ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1258_1261del (p.Cys420fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003783023 SCV004603310 pathogenic Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2024-01-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys420Thrfs*9) in the JUP gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in JUP are known to be pathogenic (PMID: 10902626). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with JUP-related conditions. For these reasons, this variant has been classified as Pathogenic.

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