ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.12540C>T (p.Gly4180=) (rs772125105)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000555869 SCV000637497 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2017-03-15 criteria provided, single submitter clinical testing This sequence change affects codon 4180 of the RYR2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RYR2 protein. This variant is present in population databases (rs772125105, ExAC 0.009%) but has not been reported in the literature in individuals with a RYR2-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845473 SCV000987566 uncertain significance not provided criteria provided, single submitter clinical testing
Color Health, Inc RCV001189675 SCV001357015 likely benign Cardiomyopathy 2018-11-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193936 SCV001363114 likely benign not specified 2019-07-12 criteria provided, single submitter clinical testing

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