ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.71C>T (p.Ser24Leu)

gnomAD frequency: 0.00001  dbSNP: rs782460555
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183480 SCV000235940 uncertain significance not provided 2020-07-23 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Invitae RCV000700883 SCV000829659 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-07-29 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. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 201806). This variant has not been reported in the literature in individuals affected with JUP-related conditions. This variant is present in population databases (rs782460555, gnomAD 0.006%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 24 of the JUP protein (p.Ser24Leu).
Fulgent Genetics, Fulgent Genetics RCV000700883 SCV002775468 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-09-01 criteria provided, single submitter clinical testing

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