ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.833A>G (p.Asn278Ser)

gnomAD frequency: 0.00002  dbSNP: rs541560189
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001037032 SCV001200423 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-05-22 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 836012). This variant has not been reported in the literature in individuals affected with JUP-related conditions. This variant is present in population databases (rs541560189, gnomAD 0.006%). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 278 of the JUP protein (p.Asn278Ser).
Fulgent Genetics, Fulgent Genetics RCV001037032 SCV002777641 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-10-06 criteria provided, single submitter clinical testing
GeneDx RCV004761886 SCV005373020 uncertain significance not provided 2024-01-29 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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