ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.5980C>T (p.Arg1994Cys) (rs369167120)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000210020 SCV000265711 uncertain significance Malignant hyperthermia, susceptibility to, 1 2013-07-01 criteria provided, single submitter research
GeneDx RCV000523127 SCV000619029 uncertain significance not provided 2018-01-22 criteria provided, single submitter clinical testing The R1994C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R1994C variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position where amino acids with similar properties to Arginine are tolerated across species. However, this variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Additionally, in silico analysis predicts this variant is probably damaging to the protein structure/function.

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