ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.2189G>A (p.Ser730Asn)

gnomAD frequency: 0.00003  dbSNP: rs782261124
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001232198 SCV001404744 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-06-09 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: 958935). This variant has not been reported in the literature in individuals affected with JUP-related conditions. This variant is present in population databases (rs782261124, gnomAD 0.01%). This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 730 of the JUP protein (p.Ser730Asn).
GeneDx RCV001760237 SCV001989660 uncertain significance not provided 2019-07-30 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Ambry Genetics RCV002429990 SCV002728567 likely benign Cardiovascular phenotype 2023-07-06 criteria provided, single submitter clinical testing This alteration is classified as likely 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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