ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.2822C>T (p.Ala941Val) (rs748568687)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000210634 SCV000262851 uncertain significance Inborn genetic diseases 2013-11-04 criteria provided, single submitter clinical testing Insufficient or inconclusive evidence
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000210019 SCV000265699 uncertain significance Malignant hyperthermia, susceptibility to, 1 2013-07-01 criteria provided, single submitter research
Illumina Clinical Services Laboratory,Illumina RCV000302588 SCV000411963 uncertain significance Multiminicore Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357405 SCV000411964 uncertain significance Neuromuscular disease, congenital, with uniform type 1 fiber 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393866 SCV000411965 uncertain significance Malignant hyperthermia susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000298912 SCV000411966 uncertain significance Myopathy, Central Core 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000538947 SCV000659903 uncertain significance RYR1-Related Disorders 2018-11-01 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 941 of the RYR1 protein (p.Ala941Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs748568687, ExAC 0.08%) but has not been reported in the literature in individuals with an RYR1-related disease. ClinVar contains an entry for this variant (Variation ID: 224377). 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 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.

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