ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.374C>T (p.Ser125Leu)

gnomAD frequency: 0.00001  dbSNP: rs782527770
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001300115 SCV001489239 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 125 of the JUP protein (p.Ser125Leu). This variant is present in population databases (rs782527770, gnomAD 0.003%). 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: 1003551). 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529260 SCV001742410 uncertain significance not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001529260 SCV001932532 uncertain significance not provided no assertion criteria provided clinical testing

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