ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.2149C>G (p.His717Asp)

gnomAD frequency: 0.00001  dbSNP: rs1347008405
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001229264 SCV001401704 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2019-07-17 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. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with JUP-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with aspartic acid at codon 717 of the JUP protein (p.His717Asp). The histidine residue is weakly conserved and there is a moderate physicochemical difference between histidine and aspartic acid.
GeneDx RCV002282491 SCV002571612 uncertain significance not provided 2022-09-08 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function
Ambry Genetics RCV002429977 SCV002730419 uncertain significance Cardiovascular phenotype 2021-11-29 criteria provided, single submitter clinical testing The p.H717D variant (also known as c.2149C>G), located in coding exon 13 of the JUP gene, results from a C to G substitution at nucleotide position 2149. The histidine at codon 717 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is conserved. 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.

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