ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.7199A>G (p.Asp2400Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706041 SCV000835070 uncertain significance RYR1-Related Disorders 2018-06-18 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 2400 of the RYR1 protein (p.Asp2400Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with malignant hyperthermia (PMID: 20681998). This sequence change is located in a region of the RYR1 protein where a significant number of previously reported RYR1 missense mutations are found (PMID: 16084090). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
PreventionGenetics RCV000721643 SCV000852757 uncertain significance not provided 2017-12-21 criteria provided, single submitter clinical testing

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