ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1920C>T (p.Gly640=)

gnomAD frequency: 0.00001  dbSNP: rs376699725
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000600327 SCV000728248 likely benign not specified 2018-03-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001209494 SCV001380931 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-03-18 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 515959). This variant has not been reported in the literature in individuals affected with JUP-related conditions. This variant is present in population databases (rs376699725, gnomAD 0.007%). This sequence change affects codon 640 of the JUP mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the JUP protein.

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