ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.3095G>A (p.Arg1032His) (rs141942845)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Knight Diagnostic Laboratories,Oregon Health and Sciences University RCV000415622 SCV000493797 uncertain significance Malignant hyperthermia, susceptibility to, 1 2015-09-26 criteria provided, single submitter clinical testing
Invitae RCV000557798 SCV000659910 uncertain significance RYR1-Related Disorders 2018-03-22 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 1032 of the RYR1 protein (p.Arg1032His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs141942845, ExAC 0.02%) but has not been reported in the literature in individuals with a RYR1-related disease. ClinVar contains an entry for this variant (Variation ID: 374974). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. Because it is found in the population at an appreciable frequency, this variant is not anticipated to cause disease. However, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
PreventionGenetics,PreventionGenetics RCV000721486 SCV000852559 uncertain significance not provided 2013-10-21 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000509560 SCV000606990 not provided RYR1-Related Disorder no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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