ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.311C>A (p.Thr104Asn)

gnomAD frequency: 0.00001  dbSNP: rs1185864978
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001237766 SCV001410540 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-02-18 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 104 of the JUP protein (p.Thr104Asn). This variant is present in population databases (no rsID available, gnomAD 0.002%). 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: 963703). 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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