ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.7527G>A (p.Val2509=)

gnomAD frequency: 0.08780  dbSNP: rs2071088
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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079166 SCV000111035 benign not specified 2014-07-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079166 SCV000194858 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000079166 SCV000269782 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Val2509Val in exon 47 of RYR1: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 9.2% (406/4406) o f African American chromosomes from a broad population by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS; dbSNP rs2071088).
Preventiongenetics, part of Exact Sciences RCV000079166 SCV000305007 benign not specified 2018-04-02 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000397086 SCV000412443 benign Malignant hyperthermia, susceptibility to, 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000298144 SCV000412444 benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000359902 SCV000412445 benign Congenital multicore myopathy with external ophthalmoplegia 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000267498 SCV000412446 benign Central core myopathy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000079166 SCV000519803 benign not specified 2016-02-08 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.
Invitae RCV001516955 SCV001725332 benign RYR1-Related Disorders 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000267498 SCV002032909 benign Central core myopathy 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795068 SCV002032910 benign King Denborough syndrome 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000359902 SCV002032911 benign Congenital multicore myopathy with external ophthalmoplegia 2021-11-07 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000397086 SCV004358133 benign Malignant hyperthermia, susceptibility to, 1 2019-03-29 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (RYR1) RCV000119720 SCV000154627 not provided not provided no assertion provided not provided
Clinical Genetics, Academic Medical Center RCV000079166 SCV001919268 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000079166 SCV001951714 benign not specified no assertion criteria provided clinical testing

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