ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1807G>T (p.Val603Leu)

gnomAD frequency: 0.00038  dbSNP: rs200327969
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719986 SCV000235972 likely benign not provided 2020-01-08 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27037756, 20864495, 31402444)
Invitae RCV000645215 SCV000766957 benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2024-01-05 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001124648 SCV001283631 uncertain significance Naxos disease 2017-04-28 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001124649 SCV001283632 uncertain significance Arrhythmogenic right ventricular dysplasia 12 2017-04-28 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Ambry Genetics RCV002408705 SCV002713993 likely benign Cardiovascular phenotype 2021-02-17 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003149960 SCV003838225 benign Cardiomyopathy 2021-11-25 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000157251 SCV000206981 uncertain significance Ventricular fibrillation, paroxysmal familial, type 1 2014-09-24 no assertion criteria provided clinical testing

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