ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.455A>G (p.Asn152Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000798110 SCV000937709 uncertain significance Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 2018-12-04 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 152 of the JUP protein (p.Asn152Ser). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with JUP-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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