ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.13371G>T (p.Lys4457Asn)

dbSNP: rs769311004
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001177400 SCV001341598 uncertain significance Cardiomyopathy 2019-10-18 criteria provided, single submitter clinical testing This missense variant replaces lysine with asparagine at codon 4457 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). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 5/237302 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.
Invitae RCV002555473 SCV001377176 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2023-10-15 criteria provided, single submitter clinical testing

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