ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.271-7C>G (rs192495718)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000513860 SCV000230117 uncertain significance not provided 2018-05-16 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000241987 SCV000304895 benign not specified 2016-07-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000269477 SCV000411822 likely benign Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000329250 SCV000411823 likely benign Central core myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000368221 SCV000411824 likely benign Minicore 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000273582 SCV000411825 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513860 SCV000610783 uncertain significance not provided 2017-05-04 criteria provided, single submitter clinical testing
GeneDx RCV000241987 SCV000620093 uncertain significance not specified 2017-09-19 criteria provided, single submitter clinical testing The c.271-7 C>G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.271-7 C>G variant is observed in 66/9,628 (0.7%) alleles from individuals of African background in the ExAC dataset, although no homozygous individuals were observed (Lek et al., 2016. Several in-silico splice prediction models predict that c.271-7 C>G damages the natural acceptor site of intron 3 and lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV001257051 SCV000659902 benign RYR1-Related Disorders 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513860 SCV001500177 likely benign not provided 2020-11-01 criteria provided, single submitter clinical testing

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