ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.6304G>T (p.Val2102Leu)

dbSNP: rs770593660
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000703718 SCV000832632 uncertain significance RYR1-related disorder 2021-08-13 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 2102 of the RYR1 protein (p.Val2102Leu). The valine residue is moderately conserved and there is a small physicochemical difference between valine and leucine. This variant is present in population databases (rs770593660, ExAC 0.003%). This missense change has been observed in individual(s) with malignant hyperthermia susceptibility (MHS) (PMID: 19346234, 23035052; Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Fulgent Genetics, Fulgent Genetics RCV002485751 SCV002781516 uncertain significance Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome 2021-10-11 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999743 SCV004820873 uncertain significance Malignant hyperthermia, susceptibility to, 1 2023-08-08 criteria provided, single submitter clinical testing

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