ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.542_556dup (p.Gly181_Leu185dup) (rs1555605296)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000645197 SCV000766939 uncertain significance Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 2017-11-06 criteria provided, single submitter clinical testing This variant, c.542_556dup, results in the insertion of 15 amino acids to the JUP protein (p.Gly181_Leu185dup), but otherwise preserves the integrity of the reading frame. 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. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids is currently unknown. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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