ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1551G>A (p.Pro517=)

gnomAD frequency: 0.00001  dbSNP: rs988891105
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001713203 SCV001939524 likely benign not provided 2019-03-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073342 SCV002347080 likely benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2024-11-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002241386 SCV002511866 likely benign not specified 2022-04-25 criteria provided, single submitter clinical testing Variant summary: JUP c.1551G>A alters a conserved nucleotide resulting in a synonymous change. The variant allele was found at a frequency of 1.6e-05 in 245748 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1551G>A in individuals affected with Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Both laboratories classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as likely benign.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150455 SCV003838227 likely benign Cardiomyopathy 2022-03-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004039967 SCV005018393 likely benign Cardiovascular phenotype 2024-01-16 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.

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