ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.8400+28A>G

gnomAD frequency: 0.32146  dbSNP: rs2915953
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Congenital Myopathies Variant Curation Expert Panel, ClinGen RCV004737204 SCV005367860 benign RYR1-related myopathy 2024-08-07 reviewed by expert panel curation The variant NM_000540.3:c.8400+28A>G in RYR1 is an intronic variant located in intron 53. The filtering allele frequency (the lower threshold of the 95% CI of 37922/85572, 8751 homozygotes) of the c.8400+28A>G variant in RYR1 is 0.4383 for South Asian chromosomes by gnomAD v4.1, which is higher than the ClinGen Congenital Myopathies VCEP threshold (≥0.00697) for BA1, and therefore meets this criterion (BA1). The c.8400+28A>G variant is an intronic variant that is not predicted by SpliceAI to impact splicing. In addition, it occurs at a nucleotide that is not conserved as shown by UCSC Genome Browser (BP4, BP7). In summary, the variant meets criteria to be classified as benign. ACMG/AMP criteria met, as specified by the congenital myopathies VCEP: BA1, BP4, BP7 (ClinGen Congenital Myopathies VCEP specifications version 1; 8/7/2024).
PreventionGenetics, part of Exact Sciences RCV000249323 SCV000305048 benign not specified 2013-10-25 criteria provided, single submitter clinical testing
GeneDx RCV000119747 SCV000969919 benign not provided 2018-06-14 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.
Genome-Nilou Lab RCV001795197 SCV002032942 benign Central core myopathy 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795199 SCV002032943 benign King Denborough syndrome 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795198 SCV002032944 benign Congenital multicore myopathy with external ophthalmoplegia 2021-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000119747 SCV005310833 benign not provided criteria provided, single submitter not provided
Leiden Muscular Dystrophy (RYR1) RCV000119747 SCV000154654 not provided not provided no assertion provided not provided

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