ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.1280C>T (p.Ser427Leu)

dbSNP: rs118192118
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV003996490 SCV004820744 uncertain significance Malignant hyperthermia, susceptibility to, 1 2023-05-15 criteria provided, single submitter clinical testing This missense variant replaces serine with leucine at codon 427 of the RYR1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with central core disease (PMID: 16621918). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
GeneReviews RCV000056239 SCV000087328 pathologic Central core myopathy 2010-05-11 no assertion criteria provided curation Converted during submission to Pathogenic.
Leiden Muscular Dystrophy (RYR1) RCV000119465 SCV000154372 not provided not provided no assertion provided not provided

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