ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.2653C>T (p.Arg885Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,University of Goettingen RCV000790848 SCV000930021 uncertain significance Central core myopathy 2019-05-23 criteria provided, single submitter clinical testing For the following reasons we consider the variant as a variant of uncertain significance: 1. a comparison with the ExAC and gnomAD browsers did not provide any evidence that this sequence change is a norm variant that can also be detected in non-infected persons; the mutation occurs with a frequency of 0.0042% (ExAC) and 0.0036% (gnomAD); 2. the mutation lies in the protein domain of the Ryanodine receptor and concerns a highly conserved amino acid; 3. the mutation type is known to be pathogenic in the disease of question (Central core disease); 4. the variant is uniformly classified as probably damaging/disease causing by four independent prediction programs (M-CAP; MutationTaster; PolyPhen-2; SIFT); 5. at the amino acid position mentioned above, a pathogenic mutation is identified. (c.2654G>A, p. Arg885His, HGMD: CM157064; Snoeck (2015) Eur J Neurol 22: 1094)

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