ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.2167_2172del (p.Asp723_Tyr724del) (rs782439900)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657981 SCV000779752 uncertain significance not provided 2018-04-04 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the JUP gene. The c.2167_2172delGACTAC variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed at a global allele frequency of 10/275930 (0.004%) alleles in large population cohorts, including 3/23970 (0.013%) alleles from individuals of African ancestry (Lek et al., 2016). The c.2167_2172delGACTAC variant is predicted to result in the in-frame deletion of two amino acids, denoted p.Asp723_Tyr724del. However, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function.
Illumina Clinical Services Laboratory,Illumina RCV000348471 SCV000402698 uncertain significance Naxos disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000394661 SCV000402699 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000824161 SCV000965047 uncertain significance Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 2018-08-11 criteria provided, single submitter clinical testing This variant, c.2167_2172delGACTAC, results in the deletion of 2 amino acids of the JUP protein (p.Asp723_Tyr724del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs782439900, ExAC 0.02%). This variant has not been reported in the literature in individuals with JUP-related disease. ClinVar contains an entry for this variant (Variation ID: 323162). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. 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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