ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.115A>G (p.Ser39Gly)

gnomAD frequency: 0.00004  dbSNP: rs782211863
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001771276 SCV002001622 uncertain significance not provided 2021-01-12 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 supports that this missense variant does not alter protein structure/function
Invitae RCV001868611 SCV002175188 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-06-05 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1314045). This variant has not been reported in the literature in individuals affected with JUP-related conditions. This variant is present in population databases (rs782211863, gnomAD 0.02%). This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 39 of the JUP protein (p.Ser39Gly). 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.
Ambry Genetics RCV002370298 SCV002623735 likely benign Cardiovascular phenotype 2022-04-29 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.
Fulgent Genetics, Fulgent Genetics RCV001868611 SCV002797672 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-08-21 criteria provided, single submitter clinical testing

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