ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.12625-2A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004726342 SCV005340283 likely pathogenic RYR1-related disorder 2024-06-26 no assertion criteria provided clinical testing The RYR1 c.12625-2A>G variant is predicted to disrupt the AG splice acceptor site and interfere with normal splicing. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Variants that disrupt the consensus splice acceptor site in RYR1 are expected to be pathogenic. This variant is interpreted as likely pathogenic for autosomal recessive RYR1-related disorders.

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