ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1910G>A (p.Arg637His) (rs142095597)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000154726 SCV000204406 likely benign not specified 2014-04-17 criteria provided, single submitter clinical testing Arg637His in exon 11 of JUP: This variant is not expected to have clinical signi ficance due to a lack of conservation across species, including mammals. Of note , multiple mammals have a histidine (His) at this position despite high nearby a mino acid conservation. In addition, computational prediction tools do not sugge st a high likelihood of impact to the protein. It has also been identified in 3/ 4406 African American chromosomes by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS/; dbSNP rs142095597).
GeneDx RCV000154726 SCV000513315 likely benign not specified 2016-08-30 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.
Invitae RCV000462604 SCV000550407 likely benign Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617705 SCV000737787 uncertain significance Cardiovascular phenotype 2019-06-26 criteria provided, single submitter clinical testing Insufficient evidence

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