ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.6023T>C (p.Met2008Thr) (rs199947661)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000512722 SCV000608898 uncertain significance not provided 2017-03-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000397620 SCV000412297 uncertain significance Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307113 SCV000412298 uncertain significance Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000364152 SCV000412299 uncertain significance Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000272082 SCV000412300 uncertain significance Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000535360 SCV000659977 uncertain significance RYR1-Related Disorders 2018-10-12 criteria provided, single submitter clinical testing This sequence change replaces methionine with threonine at codon 2008 of the RYR1 protein (p.Met2008Thr). The methionine residue is moderately conserved and there is a moderate physicochemical difference between methionine and threonine. This variant is present in population databases (rs199947661, ExAC 0.03%). This variant has not been reported in the literature in individuals with a RYR1-related disease. ClinVar contains an entry for this variant (Variation ID: 329043). 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"). In summary, this variant has uncertain impact on RYR1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
PreventionGenetics RCV000512722 SCV000852694 uncertain significance not provided 2015-08-28 criteria provided, single submitter clinical testing

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