ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.6431G>A (p.Arg2144His) (rs1243083109)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000588619 SCV000697628 uncertain significance not provided 2017-05-08 criteria provided, single submitter clinical testing Variant summary: The RYR2 c.6431G>A (p.Arg2144His) variant located in the RIH domain (via InterPro) involves the alteration of a conserved nucleotide and 3/4 in silico tools (SNPsandGO not captured due to low reliability index) predict a damaging outcome. However, these predictions have yet to be functionally assessed. This variant is absent in 119284 control chromosomes (ExAC). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a "Variant of Uncertain Significance (VUS)," until additional information becomes available.

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