ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.2021A>G (p.Lys674Arg)

gnomAD frequency: 0.00003  dbSNP: rs1914011596
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001071739 SCV001237059 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-06-08 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 864527). 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 lysine, which is basic and polar, with arginine, which is basic and polar, at codon 674 of the JUP protein (p.Lys674Arg).
Ambry Genetics RCV002418568 SCV002718498 uncertain significance Cardiovascular phenotype 2019-08-12 criteria provided, single submitter clinical testing The p.K674R variant (also known as c.2021A>G), located in coding exon 11 of the JUP gene, results from an A to G substitution at nucleotide position 2021. The lysine at codon 674 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, arginine is the reference amino acid in other 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.
Clinical Genetics, Academic Medical Center RCV001699507 SCV001917507 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001699507 SCV001970665 uncertain significance not provided no assertion criteria provided clinical testing

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