ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.2118dup (p.Ser707fs)

dbSNP: rs1913623011
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001058935 SCV001223536 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2019-12-01 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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). This sequence change results in a premature translational stop signal in the JUP gene (p.Ser707Glnfs*6). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 39 amino acids of the JUP protein.

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