ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1850C>T (p.Ala617Val)

gnomAD frequency: 0.00002  dbSNP: rs782465804
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000800924 SCV000940668 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-08-22 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 617 of the JUP protein (p.Ala617Val). This variant has not been reported in the literature in individuals affected with JUP-related conditions. 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: 646605). This variant is present in population databases (rs782465804, gnomAD 0.04%).
Ambry Genetics RCV002406771 SCV002711512 benign Cardiovascular phenotype 2023-10-21 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.

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