ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.222C>G (p.Tyr74Ter)

dbSNP: rs2143697976
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001999850 SCV002234656 pathogenic Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-02-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr74*) 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). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with JUP-related conditions. This variant is not present in population databases (ExAC no frequency).

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