ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.193G>T (p.Val65Leu)

dbSNP: rs727503100
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150855 SCV000198413 uncertain significance not specified 2013-12-12 criteria provided, single submitter clinical testing The Val65Leu variant in JUP has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational analyses (biochemi cal amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that this variant may not impact the protein, though this information is not pr edictive enough to rule out pathogenicity. Additional information is needed to f ully assess the clinical significance of this variant.
Invitae RCV002516030 SCV003474157 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2022-08-07 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD 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. 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. ClinVar contains an entry for this variant (Variation ID: 163727). This variant has not been reported in the literature in individuals affected with JUP-related conditions. This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 65 of the JUP protein (p.Val65Leu).

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