ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.2578-2A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV004018253 SCV004847256 likely pathogenic Central core myopathy 2023-02-02 criteria provided, single submitter clinical testing The c.2578-2A>G variant in RYR1 has not been previously reported in individuals with myopath and was absent from large population studies. This variant occurs within the canonical splice site (+/- 1,2) and is predicted to cause altered splicing leading to an abnormal or absent protein. Loss of function of the RYR1 gene is an established disease mechanism in autosomal recessive RYR1 related myopathy. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal recessive RYR1-related myopathy. ACMG/AMP criteria applied: PVS1_Strong, PM2_Supporting.

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