ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser)

gnomAD frequency: 0.00016  dbSNP: rs185237690
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704872 SCV000235000 likely benign not provided 2018-11-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26498160, 23595086, 27452199, 26332594, 27756708, 27538377)
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490424 SCV000267485 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2016-03-18 criteria provided, single submitter reference population
Invitae RCV000490424 SCV000285729 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-01-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619293 SCV000737994 likely benign Cardiovascular phenotype 2016-08-11 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.
Color Diagnostics, LLC DBA Color Health RCV000776180 SCV000911304 likely benign Cardiomyopathy 2018-05-29 criteria provided, single submitter clinical testing
Mendelics RCV000490424 SCV001135599 benign Catecholaminergic polymorphic ventricular tachycardia 1 2019-05-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001100767 SCV001257303 uncertain significance Arrhythmogenic right ventricular dysplasia 2 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). 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.
Illumina Laboratory Services, Illumina RCV000490424 SCV001257304 benign Catecholaminergic polymorphic ventricular tachycardia 1 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003235105 SCV003934700 likely benign not specified 2023-05-15 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001704872 SCV001962903 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001704872 SCV001965394 likely benign not provided no assertion criteria provided clinical testing

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