ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.275G>A (p.Gly92Asp)

dbSNP: rs782737074
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000536647 SCV000645736 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2022-05-28 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 92 of the JUP protein (p.Gly92Asp). This variant is present in population databases (rs782737074, gnomAD 0.04%). 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: 468751). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
MGZ Medical Genetics Center RCV002289763 SCV002579180 uncertain significance Arrhythmogenic right ventricular dysplasia 12 2022-04-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002438426 SCV002749051 benign Cardiovascular phenotype 2021-06-15 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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