ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.2138C>T (p.Pro713Leu)

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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 RCV003788884 SCV004571751 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2025-01-29 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 713 of the JUP protein (p.Pro713Leu). This variant is present in population databases (rs530653041, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with JUP-related conditions. ClinVar contains an entry for this variant (Variation ID: 2926646). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
PreventionGenetics, part of Exact Sciences RCV004755017 SCV005359747 uncertain significance JUP-related disorder 2024-06-06 no assertion criteria provided clinical testing The JUP c.2138C>T variant is predicted to result in the amino acid substitution p.Pro713Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.011% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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