ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1379G>A (p.Arg460His) (rs397517296)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000698555 SCV000827225 uncertain significance Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 2018-04-05 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 460 of the JUP protein (p.Arg460His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs397517296, ExAC 0.02%). This variant has not been reported in the literature in individuals with JUP-related disease. ClinVar contains an entry for this variant (Variation ID: 45835). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039064 SCV000062742 uncertain significance not specified 2013-08-09 criteria provided, single submitter clinical testing The Arg460His variant in JUP has been identified by our laboratory in 1 individu al with HCM and has not been identified in large population studies. Computation al analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhe n2, and SIFT) do not provide strong support for or against an impact to the prot ein. Additional information is needed to fully assess the clinical significance of this variant.

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