ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.15077G>A (p.Gly5026Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital RCV004800940 SCV005414526 uncertain significance Malignant hyperthermia, susceptibility to, 1 2024-11-26 criteria provided, single submitter clinical testing This variant was detected in an individual with history of malignant hyperthermia, as well as proximal and central muscle weakness. The variant is absent from control population database (gnomAD v.4.1.0). It is located at the C-terminal region but distal to the known hotspot region as defined by ClinGen VCEP (PMID: 33767344). In silico analysis suggests a pathogenic effect (REVEL 0.87).

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