ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.7863C>T (p.His2621=)

gnomAD frequency: 0.16420  dbSNP: rs2229142
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Total submissions: 18
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079172 SCV000111041 benign not specified 2013-08-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079172 SCV000194864 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000079172 SCV000269785 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.His2621His in exon 49 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 18.9% (834/4406) of African American chromosomes from a broad population by the NHLBI Exome Seque ncing Project (http://evs.gs.washington.edu/EVS; dbSNP rs2229142).
Preventiongenetics, part of Exact Sciences RCV000079172 SCV000305026 benign not specified 2018-04-02 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000350558 SCV000412499 benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000390814 SCV000412500 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 RCV000296738 SCV000412501 benign Central core myopathy 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 RCV000351618 SCV000412502 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.
GeneDx RCV000079172 SCV000519804 benign not specified 2016-01-28 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 RCV001514062 SCV001721811 benign RYR1-Related Disorders 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000296738 SCV002032919 benign Central core myopathy 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795071 SCV002032920 benign King Denborough syndrome 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000390814 SCV002032921 benign Congenital multicore myopathy with external ophthalmoplegia 2021-11-07 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000351618 SCV004358141 benign Malignant hyperthermia, susceptibility to, 1 2019-03-29 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (RYR1) RCV000119732 SCV000154639 not provided not provided no assertion provided not provided
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000119732 SCV001549840 uncertain significance not provided no assertion criteria provided clinical testing Allele frequency is common in at least one population database (frequency: 29.482% in gnomAD_Exomes) based on the frequency threshold of 2.223% for this gene. Variant was observed in a homozygous state in population databases more than expected for disease. 9 reputable source/s reports the variant as benign, but the evidence is not available to the laboratory to perform an independent evaluation. A synonymous variant not located in a splice region.
Clinical Genetics, Academic Medical Center RCV000079172 SCV001924853 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000079172 SCV001957504 benign not specified no assertion criteria provided clinical testing

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