ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.8209-3A>G

gnomAD frequency: 0.00047  dbSNP: rs376788358
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Total submissions: 6
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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 RCV000036795 SCV000060450 likely benign not specified 2019-09-24 criteria provided, single submitter clinical testing The c.8209-3G>A variant in RYR2 is classified as likely benign because it has been identified in 0.15% (34/21760) of African chromosomes by gnomAD (http://gnomad.broadinstitute.org). This variant is located in the 3' splice region. Although a subset of computational tools predict a possible splicing impact, this information is not predictive enough to support pathogenicity in the absence of additional data. ACMG/AMP Criteria applied: BA1, PP3.
GeneDx RCV001719734 SCV000235153 uncertain significance not provided 2021-10-21 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Reported in ClinVar (ClinVar Variant ID# 43829; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 32746448)
Ambry Genetics RCV000621356 SCV000736332 likely benign Cardiovascular phenotype 2019-04-03 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification
Invitae RCV000866921 SCV001008090 likely benign Catecholaminergic polymorphic ventricular tachycardia 2021-11-23 criteria provided, single submitter clinical testing
Color Health, Inc RCV001175859 SCV001339638 likely benign Cardiomyopathy 2019-09-23 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000678751 SCV000804927 uncertain significance Dilated cardiomyopathy with left ventricular noncompaction 2015-10-01 no assertion criteria provided clinical testing

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