ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.10324-4A>G (rs72751287)

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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, Partners HealthCare 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/).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000036649 SCV000203487 likely benign not specified 2014-04-10 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000202863 SCV000257746 benign Catecholaminergic polymorphic ventricular tachycardia type 1 2015-05-11 criteria provided, single submitter clinical testing
Invitae RCV000229891 SCV000285686 benign Catecholaminergic polymorphic ventricular tachycardia 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000246904 SCV000318758 likely benign Cardiovascular phenotype 2018-11-27 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;In silico models in agreement (benign)
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 RCV000768787 SCV000910860 benign Cardiomyopathy 2018-03-09 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America 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 Clinical Services Laboratory,Illumina RCV000202863 SCV001254171 likely benign Catecholaminergic polymorphic ventricular tachycardia type 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 Clinical Services Laboratory,Illumina RCV001097852 SCV001254172 uncertain significance Arrhythmogenic right ventricular dysplasia, familial, 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.

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