ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.*3G>A

gnomAD frequency: 0.00011  dbSNP: rs201552065
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126392 SCV000169896 benign not specified 2014-02-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000126392 SCV004029635 benign not specified 2023-07-05 criteria provided, single submitter clinical testing Variant summary: JUP c.*3G>A is located in the untranslated mRNA region downstream of the termination codon. The variant allele was found at a frequency of 0.00021 in 229134 control chromosomes. The observed variant frequency is approximately 34 fold of the estimated maximal expected allele frequency for a pathogenic variant in JUP causing Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy phenotype (6.3e-06), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.*3G>A in individuals affected with Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as benign. Based on the evidence outlined above, the variant was classified as benign.

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