ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1085C>T (p.Thr362Ile)

dbSNP: rs1915432778
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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 RCV001312753 SCV001503218 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2020-10-27 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This sequence change replaces threonine with isoleucine at codon 362 of the JUP protein (p.Thr362Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant has not been reported in the literature in individuals with JUP-related conditions. This variant is not present in population databases (ExAC no frequency). 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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