ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.7787C>T (p.Thr2596Ile) (rs193922824)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000816104 SCV000956594 uncertain significance RYR1-Related Disorders 2018-10-09 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 2596 of the RYR1 protein (p.Thr2596Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs193922824, ExAC 0.02%). This variant has been observed in an individual affected with malignant hyperthermia (PMID: 16917943). ClinVar contains an entry for this variant (Variation ID: 133212). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
Leiden Muscular Dystrophy (RYR1) RCV000119728 SCV000154635 not provided not provided no assertion provided not provided

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