ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.592G>A (p.Asp198Asn)

gnomAD frequency: 0.00001  dbSNP: rs782799529
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001050021 SCV001214107 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2024-09-06 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 198 of the JUP protein (p.Asp198Asn). This variant is present in population databases (rs782799529, gnomAD 0.002%). This missense change has been observed in individual(s) with dilated cardiomyopathy (PMID: 28416588). ClinVar contains an entry for this variant (Variation ID: 846661). 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.

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