ClinVar Miner

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

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000513860 SCV000230117 uncertain significance not provided 2018-05-16 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.
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 Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000368221 SCV000411824 likely benign Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000273582 SCV000411825 likely benign Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000526382 SCV000659902 benign RYR1-Related Disorders 2018-01-15 criteria provided, single submitter clinical testing
PreventionGenetics RCV000241987 SCV000304895 benign not specified 2016-07-15 criteria provided, single submitter clinical testing

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