ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.1144G>A (p.Val382Met)

gnomAD frequency: 0.00007  dbSNP: rs370057029
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182675 SCV000235054 likely benign not provided 2023-08-25 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000202980 SCV000257747 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2015-06-17 criteria provided, single submitter clinical testing
Invitae RCV000202980 SCV000828023 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2023-12-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000777719 SCV000913663 uncertain significance Cardiomyopathy 2023-04-10 criteria provided, single submitter clinical testing This variant is located in the RYR2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 21/272778 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV001256935 SCV001433456 uncertain significance Arrhythmogenic right ventricular dysplasia 1 2019-10-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002453657 SCV002613773 uncertain significance Cardiovascular phenotype 2023-02-13 criteria provided, single submitter clinical testing The p.V382M variant (also known as c.1144G>A), located in coding exon 13 of the RYR2 gene, results from a G to A substitution at nucleotide position 1144. The valine at codon 382 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000182675 SCV001743349 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000182675 SCV001925532 uncertain significance not provided no assertion criteria provided clinical testing

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