ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1236G>A (p.Thr412=)

gnomAD frequency: 0.00001  dbSNP: rs376391674
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619371 SCV000737038 likely benign Cardiovascular phenotype 2017-10-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001860381 SCV002113097 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-08-31 criteria provided, single submitter clinical testing This sequence change affects codon 412 of the JUP mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the JUP protein. This variant is present in population databases (rs376391674, ExAC 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: 519076). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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