ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1760C>T (p.Pro587Leu)

gnomAD frequency: 0.00001  dbSNP: rs782490959
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001912383 SCV002162716 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-08-23 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 587 of the JUP protein (p.Pro587Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs782490959, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with JUP-related conditions. 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: "Possibly 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.
Ambry Genetics RCV002407012 SCV002716738 uncertain significance Cardiovascular phenotype 2022-03-19 criteria provided, single submitter clinical testing The p.P587L variant (also known as c.1760C>T), located in coding exon 9 of the JUP gene, results from a C to T substitution at nucleotide position 1760. The proline at codon 587 is replaced by leucine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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