ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.7060G>A (p.Ala2354Thr)

dbSNP: rs773070579
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002528375 SCV000637597 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2023-12-06 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001525946 SCV001736166 uncertain significance Cardiomyopathy 2023-06-01 criteria provided, single submitter clinical testing This missense variant replaces alanine with threonine at codon 2354 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 been reported in an individual affected with ventricular fibrillation (PMID: 29032884) and in another individual affected with long QT syndrome (DOI:10.5281/zenodo.5636351). This variant has also been identified in 10/248894 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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