ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.5581C>T (p.Gln1861Ter)

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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 RCV004729828 SCV005335582 likely pathogenic RYR1-related disorder 2024-09-23 no assertion criteria provided clinical testing The RYR1 c.5581C>T variant is predicted to result in premature protein termination (p.Gln1861*). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in RYR1 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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