ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.11763C>A (p.Tyr3921Ter) (rs377178986)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER_CC_NCGL; University of Washington Medical Center RCV000148788 SCV000190526 likely benign Congenital myopathy 2014-06-01 no assertion criteria provided research
Fulgent Genetics,Fulgent Genetics RCV000763428 SCV000894193 pathogenic 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 RCV000704053 SCV000832986 pathogenic RYR1-Related Disorders 2018-09-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr3921*) in the RYR1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs377178986, ExAC 0.004%). This variant has been reported in combination with another RYR1 variant in individuals affected with myopathy (PMID: 22473935, 28818389). ClinVar contains an entry for this variant (Variation ID: 161361). Loss-of-function variants in RYR1 are known to be pathogenic (PMID: 20583297, 23919265). For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics RCV000721251 SCV000852268 likely pathogenic not provided 2013-11-22 criteria provided, single submitter clinical testing

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