ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.12865A>G (p.Ser4289Gly)

gnomAD frequency: 0.00002  dbSNP: rs1386632671
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003153986 SCV001503904 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2023-08-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476447 SCV002784489 uncertain significance Arrhythmogenic right ventricular dysplasia 2; Catecholaminergic polymorphic ventricular tachycardia 1; Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 2021-10-06 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003532941 SCV004361525 uncertain significance Cardiomyopathy 2023-06-16 criteria provided, single submitter clinical testing This missense variant replaces serine with glycine at codon 4289 of 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 RYR2-related disorders in the literature. This variant has been identified in 4/280172 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.
All of Us Research Program, National Institutes of Health RCV004005069 SCV004843616 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2024-02-05 criteria provided, single submitter clinical testing This missense variant replaces serine with glycine at codon 4289 of 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 RYR2-related disorders in the literature. This variant has been identified in 4/280172 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.

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