ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.49G>A (p.Asp17Asn)

gnomAD frequency: 0.00003  dbSNP: rs370488091
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001776981 SCV002014013 uncertain significance not provided 2017-09-28 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004009048 SCV004837082 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2023-10-06 criteria provided, single submitter clinical testing This missense variant replaces aspartic acid with asparagine at codon 17 of the RYR2 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 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 been identified in 5/193588 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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