ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.13671C>G (p.Ser4557=)

gnomAD frequency: 0.04188  dbSNP: rs35959206
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079130 SCV000110999 benign not specified 2013-11-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079130 SCV000194805 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000079130 SCV000304827 benign not specified 2018-03-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000391147 SCV000412984 benign Malignant hyperthermia, susceptibility to, 1 2018-01-12 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 RCV000313093 SCV000412985 benign Central core myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000369977 SCV000412986 benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000277839 SCV000412987 benign Congenital multicore myopathy with external ophthalmoplegia 2018-01-12 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 RCV000079130 SCV000522810 benign not specified 2016-02-29 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 RCV000539934 SCV000659823 benign RYR1-Related Disorders 2024-02-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000079130 SCV000711712 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Ser4557Ser in exon 94 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 4.9% (420/8600) o f European American chromosomes from a broad population by the NHLBI Exome Seque ncing Project (http://evs.gs.washington.edu/EVS; dbSNP rs35959206).
Color Diagnostics, LLC DBA Color Health RCV000391147 SCV004358215 benign Malignant hyperthermia, susceptibility to, 1 2019-03-29 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (RYR1) RCV000119482 SCV000154389 not provided not provided no assertion provided not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000119482 SCV002036180 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000079130 SCV002037317 benign not specified no assertion criteria provided clinical testing

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