ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.2178C>T (p.Ile726=) (rs141295561)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618792 SCV000736806 likely benign Cardiovascular phenotype 2017-04-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000039077 SCV000169894 benign not specified 2013-12-09 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 RCV000547915 SCV000645734 likely benign Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 2017-09-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039077 SCV000062755 likely benign not specified 2012-06-19 criteria provided, single submitter clinical testing Ile726Ile in exon 14 of JUP: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue, is not located within t he splice consensus sequence. It has been identified in 0.1% (6/7020) of Europea n American chromosomes from a broad population by the NHLBI Exome Sequencing Pro ject (http://evs.gs.washington.edu/EVS; dbSNP rs141295561). Ile726Ile in exon 1 4 of JUP (rs141295561; allele frequency= 0.1%, 6/7020) **

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