ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.10824+8G>A

gnomAD frequency: 0.00009  dbSNP: rs374325589
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001034975 SCV001198279 likely benign RYR1-related disorder 2025-01-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489536 SCV002790335 uncertain significance Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome 2021-09-14 criteria provided, single submitter clinical testing
GeneDx RCV004590030 SCV005080398 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004689962 SCV005185772 uncertain significance not specified 2025-05-01 criteria provided, single submitter clinical testing Variant summary: RYR1 c.10824+8G>A alters a nucleotide located at a position not widely known to affect splicing. Several computational tools predict a significant impact on normal splicing: Three predict the variant strengthens/creates a cryptic 5' donor site. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 6e-05 in 250346 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in RYR1 causing Myopathy, RYR1-Associated, allowing no conclusion about variant significance. To our knowledge, no occurrence of c.10824+8G>A in individuals affected with Myopathy, RYR1-Associated and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 834318). Based on the evidence outlined above, the variant was classified as uncertain significance.

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