ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1224C>T (p.Leu408=)

gnomAD frequency: 0.00620  dbSNP: rs2230408
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039061 SCV000062739 benign not specified 2013-08-22 criteria provided, single submitter clinical testing Leu408Leu in exon 8 of JUP: This variant is not expected to have clinical signif icance because it has been identified in 2.0% (90/4406) of African American chro mosomes from a broad population by the NHLBI Exome Sequencing Project (http://ev s.gs.washington.edu/EVS/; dbSNP rs2230408).
GeneDx RCV000039061 SCV000168910 benign not specified 2014-03-07 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 RCV000232420 SCV000287304 benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000252367 SCV000319140 benign Cardiovascular phenotype 2015-04-20 criteria provided, single submitter clinical testing This alteration is classified as 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.
Illumina Laboratory Services, Illumina RCV000289241 SCV000402734 likely benign Naxos disease 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000327834 SCV000402735 likely benign Arrhythmogenic right ventricular dysplasia 12 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769492 SCV000900887 benign Cardiomyopathy 2016-08-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811278 SCV001472198 benign not provided 2023-08-16 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000039061 SCV001921017 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000039061 SCV001954188 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000039061 SCV001968821 benign not specified no assertion criteria provided clinical testing

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