ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.10324-4A>G

gnomAD frequency: 0.00203  dbSNP: rs72751287
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Total submissions: 17
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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 RCV000036649 SCV000060304 benign not specified 2013-01-12 criteria provided, single submitter clinical testing 10324-4A>G in intron 71 of RYR2: This variant is not expected to have clinical s ignificance because it does not affect the splicing consensus sequence and has b een identified in 0.3% (23/6634) of chromosomes from a broad population by the N HGRI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/).
Eurofins Ntd Llc (ga) RCV000036649 SCV000203487 likely benign not specified 2014-04-10 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000202863 SCV000257746 benign Catecholaminergic polymorphic ventricular tachycardia 1 2015-05-11 criteria provided, single submitter clinical testing
Invitae RCV000202863 SCV000285686 benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000246904 SCV000318758 likely benign Cardiovascular phenotype 2018-11-27 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.
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital RCV000036649 SCV000864330 likely benign not specified 2017-11-01 criteria provided, single submitter clinical testing BS1, BP4, BP6; This alteration has an allele frequency that is greater than expected for the associated disease, is predicted to be tolerated by multiple functional prediction tools, and was reported as a benign/likely benign alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory).
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000768787 SCV000900158 likely benign Cardiomyopathy 2017-08-21 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000768787 SCV000910860 benign Cardiomyopathy 2018-03-09 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000036649 SCV000920164 benign not specified 2018-01-22 criteria provided, single submitter clinical testing Variant summary: c.10324-4A>G in RYR2 gene is an intronic change that involves a non-conserved nucleotide. 2/5 programs in Alamut predict that this variant creates a new cryptic donor site, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in the control population dataset of gnomAD at frequency of 0.00186 (513/275834chrs tested), predominantly in individuals of European (N-F) descent (0.0038;483/ 126018 chrs tested, including 1 homozygote). The observed frequency greatly exceeds the maximum expected allele frequency for a pathogenic variant of 0.00003, suggesting that it is a common polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals in published reports but is cited as Benign by reputable database/clinical laboratory. Taking together, the variant was classified as Benign.
Illumina Laboratory Services, Illumina RCV000202863 SCV001254171 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2018-03-12 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 RCV001097852 SCV001254172 uncertain significance Arrhythmogenic right ventricular dysplasia 2 2018-03-12 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.
GeneDx RCV001528231 SCV001893628 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528231 SCV001739610 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000036649 SCV001924800 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000036649 SCV001928060 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000036649 SCV001951736 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001528231 SCV001966137 likely benign not provided no assertion criteria provided clinical testing

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