ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.5020G>A (p.Ala1674Thr)

gnomAD frequency: 0.00001  dbSNP: rs1460141666
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000655562 SCV000777493 uncertain significance RYR1-related disorder 2019-09-24 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with RYR1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with threonine at codon 1674 of the RYR1 protein (p.Ala1674Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine.
Eurofins Ntd Llc (ga) RCV000729537 SCV000857208 uncertain significance not provided 2017-10-13 criteria provided, single submitter clinical testing
Dept of Medical Biology, Uskudar University RCV003318383 SCV004022036 uncertain significance Long QT syndrome 2024-01-08 criteria provided, single submitter research Criteria: PM2, PP3
All of Us Research Program, National Institutes of Health RCV004004148 SCV004820851 uncertain significance Malignant hyperthermia, susceptibility to, 1 2023-08-15 criteria provided, single submitter clinical testing

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