ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.14393A>G (p.Asp4798Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003297614 SCV004009311 uncertain significance Cardiovascular phenotype 2023-03-23 criteria provided, single submitter clinical testing The p.D4798G variant (also known as c.14393A>G), located in coding exon 100 of the RYR2 gene, results from an A to G substitution at nucleotide position 14393. The aspartic acid at codon 4798 is replaced by glycine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004009727 SCV004841763 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2023-11-02 criteria provided, single submitter clinical testing This missense variant replaces aspartic acid with glycine at codon 4798 of the RYR2 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, 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 not been identified 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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