ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1715G>T (p.Arg572Leu)

dbSNP: rs397517298
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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 RCV000039069 SCV000062747 uncertain significance not specified 2012-07-25 criteria provided, single submitter clinical testing The Arg572Leu variant in JUP has not been reported in the literature nor previou sly identified by our laboratory. It has also not been detected in 2 very large and broad populations (European and African American) screened by the NHLBI Exom e Sequencing Project (http://evs.gs.washington.edu/EVS/). This low frequency is consistent with a disease causing role but is insufficient to establish this wit h confidence. The affected amino acid is highly conserved in evolution, suggesti ng that a change would impact the protein. This is consistent with other comput ational analyses (biochemical amino acid properties, AlignGVGD, PolyPhen2, and S IFT) that predict an impact to the protein (their accuracy is unknown). Addition al information is needed to fully assess the clinical significance of the Arg572 Leu variant.
Invitae RCV002513522 SCV002975212 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2022-02-25 criteria provided, single submitter clinical testing 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 45840). This variant has not been reported in the literature in individuals affected with JUP-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 572 of the JUP protein (p.Arg572Leu).

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