ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.5036G>A (p.Arg1679His) (rs146504767)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000148794 SCV000265706 likely benign Malignant hyperthermia, susceptibility to, 1 2013-07-01 criteria provided, single submitter research
CSER_CC_NCGL; University of Washington Medical Center RCV000148794 SCV000190532 likely benign Malignant hyperthermia, susceptibility to, 1 2014-06-01 no assertion criteria provided research
CSER_CC_NCGL; University of Washington Medical Center RCV000211448 SCV000212211 likely benign Malignant hyperthermia 2015-03-11 criteria provided, single submitter research
CeGaT Praxis fuer Humangenetik Tuebingen RCV000487911 SCV000575172 uncertain significance not provided 2016-10-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000487911 SCV000332292 uncertain significance not provided 2015-06-24 criteria provided, single submitter clinical testing
GeneDx RCV000382065 SCV000514424 likely benign not specified 2018-02-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000382065 SCV000596899 likely benign not specified 2016-07-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000377673 SCV000412225 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000285430 SCV000412226 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000342699 SCV000412227 likely benign Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000371955 SCV000412228 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000535953 SCV000659954 likely benign RYR1-Related Disorders 2017-11-30 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000382065 SCV000540247 uncertain significance not specified 2017-01-24 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: This variant has been reported in 5 papers, with comments suggesting VUS in relation to TAAD. It is present in gnomAD with a Max MAF of 0.13% (14/10158 Ashkenazi Jews). It is classified in ClinVar with 2 stars as VUS by Ambry and CSER_CC_NCGL.
PreventionGenetics RCV000487911 SCV000852666 uncertain significance not provided 2016-07-19 criteria provided, single submitter clinical testing

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