ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.628C>T (p.His210Tyr) (rs1567818128)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694370 SCV000822812 uncertain significance Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 2018-05-24 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 210 of the JUP protein (p.His210Tyr). The histidine residue is moderately conserved and there is a moderate physicochemical difference between histidine and tyrosine. 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 disease. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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