ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.8416C>T (p.Arg2806Cys)

gnomAD frequency: 0.00006  dbSNP: rs727504134
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002526384 SCV000541647 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-05-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411425 SCV002675810 uncertain significance Cardiovascular phenotype 2024-04-25 criteria provided, single submitter clinical testing The p.R2806C variant (also known as c.8416C>T), located in coding exon 56 of the RYR2 gene, results from a C to T substitution at nucleotide position 8416. The arginine at codon 2806 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002480340 SCV002783679 uncertain significance Arrhythmogenic right ventricular dysplasia 2; Catecholaminergic polymorphic ventricular tachycardia 1; Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 2021-07-02 criteria provided, single submitter clinical testing

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