ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.2204C>T (p.Pro735Leu)

dbSNP: rs782574785
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001974948 SCV002211703 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-12-04 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 735 of the JUP protein (p.Pro735Leu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with JUP-related conditions. ClinVar contains an entry for this variant (Variation ID: 1439390). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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 RCV002425294 SCV002729548 uncertain significance Cardiovascular phenotype 2018-10-06 criteria provided, single submitter clinical testing The p.P735L variant (also known as c.2204C>T), located in coding exon 13 of the JUP gene, results from a C to T substitution at nucleotide position 2204. The proline at codon 735 is replaced by leucine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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