ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.426C>T (p.Arg142=)

gnomAD frequency: 0.00018  dbSNP: rs142599474
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546497 SCV000645731 benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2024-01-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193380 SCV001362161 benign not specified 2019-10-30 criteria provided, single submitter clinical testing Variant summary: JUP c.426C>T alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00016 in 246898 control chromosomes. The observed variant frequency is approximately 6.48 fold of the estimated maximal expected allele frequency for a pathogenic variant in JUP causing Cardiomyopathy phenotype (2.5e-05), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.426C>T in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as benign. Based on the evidence outlined above, the variant was classified as benign.
GeneDx RCV001653905 SCV001865588 likely benign not provided 2021-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002330913 SCV002631704 likely benign Cardiovascular phenotype 2019-02-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001653905 SCV001927628 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001653905 SCV001955544 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001653905 SCV001964239 likely benign not provided no assertion criteria provided clinical testing

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