ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.188del (p.Gln63fs)

dbSNP: rs1555606936
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000531029 SCV000638190 pathogenic Naxos disease 2017-08-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln63Argfs*97) in the JUP 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 variant has not been reported in the literature in individuals with JUP-related disease. Loss-of-function variants in JUP are known to be pathogenic (PMID: 10902626). For these reasons, this variant has been classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001382209 SCV001580872 pathogenic Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2022-03-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with JUP-related conditions. This sequence change creates a premature translational stop signal (p.Gln63Argfs*97) 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). ClinVar contains an entry for this variant (Variation ID: 464030). For these reasons, this variant has been classified as Pathogenic.

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