ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.14678G>A (p.Arg4893Gln) (rs118192151)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000119546 SCV000582675 pathogenic not provided 2018-07-25 criteria provided, single submitter clinical testing The R4893Q pathogenic variant in the RYR1 gene has been reported previously in multiple unrelated families with central core disease, in association with autosomal dominant inheritance (Davis et al., 2003). Functional studies demostrated that R4893Q reduces calcium release and dramatically alters protein function (Kraeva et al., 2013). The R4893Q variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R4893Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a conserved position that is predicted to be located within the pore forming domain. Therefore, we interpret R4893Q as a pathogenic variant.
GeneReviews RCV000056235 SCV000087324 pathologic Myopathy, Central Core 2010-05-11 no assertion criteria provided curation Converted during submission to Pathogenic.
Genetic Services Laboratory, University of Chicago RCV000119546 SCV000596909 likely pathogenic not provided 2016-03-04 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (RYR1) RCV000119546 SCV000154453 not provided not provided no assertion provided not provided
PreventionGenetics RCV000119546 SCV000852448 pathogenic not provided 2016-10-14 criteria provided, single submitter clinical testing

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