ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.2188A>G (p.Ser730Gly)

dbSNP: rs1009184280
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001970604 SCV002257486 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-05-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with JUP-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 730 of the JUP protein (p.Ser730Gly). 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. 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: 1468213).
Ambry Genetics RCV002425342 SCV002728558 uncertain significance Cardiovascular phenotype 2019-12-10 criteria provided, single submitter clinical testing The p.S730G variant (also known as c.2188A>G), located in coding exon 13 of the JUP gene, results from an A to G substitution at nucleotide position 2188. The serine at codon 730 is replaced by glycine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003893030 SCV004710223 uncertain significance JUP-related disorder 2023-10-28 criteria provided, single submitter clinical testing The JUP c.2188A>G variant is predicted to result in the amino acid substitution p.Ser730Gly. This variant was reported as uncertain significance in an individual with arrhythmogenic ventricular cardiomyopathy; however, this individual also carried an additional variant in a cardiomyopathy-associated gene. Additionally, this variant did not segregate with disorders within the family (Rawal et al. 2021. PubMed ID: 34317553). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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