ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.2044C>T (p.Arg682Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group,Broad Institute RCV001004922 SCV001164432 uncertain significance Central core myopathy 2018-12-03 criteria provided, single submitter research The heterozygous p.Arg682Trp variant in RYR1 was identified by our study in the compound heterozygous state, with a VUS, in one individual with central core disease of muscle. This variant has been identified in 0.001221% (3/245672) of chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs776252106). Although this variant has been seen in the general population, its frequency is low enough to be consistent with a recessive carrier frequency. Computational prediction tools suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. The RYR1 gene has a low rate of benign missense variants, raising the possibility that a change in this gene may not be tolerated. In summary, the clinical significance of the p.Arg682Trp variant is uncertain. ACMG/AMP Criteria applied: PM2, PP2, PP3 (Richards 2015).

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