ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.641C>T (p.Thr214Met) (rs727504129)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000721610 SCV000203446 uncertain significance not provided 2014-01-13 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765444 SCV000896735 uncertain significance Myopathy, Central Core; Malignant hyperthermia, susceptibility to, 1; Minicore myopathy; Congenital myopathy with fiber type disproportion 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000815630 SCV000956091 uncertain significance RYR1-Related Disorders 2018-11-20 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 214 of the RYR1 protein (p.Thr214Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs727504129, ExAC 0.02%). This variant has been reported in an individual affected with malignant hyperthermia (PMID: 25658027). ClinVar contains an entry for this variant (Variation ID: 167614). Experimental studies have shown that this missense change does not affect the calcium release of the RYR1 protein in vitro (PMID: 27857962). 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 RCV000721610 SCV000852707 uncertain significance not provided 2013-10-28 criteria provided, single submitter clinical testing

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