ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.80C>G (p.Thr27Ser)

dbSNP: rs1399536009
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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 RCV002560291 SCV001372758 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2019-05-10 criteria provided, single submitter clinical testing This sequence change replaces threonine with serine at codon 27 of the RYR2 protein (p.Thr27Ser). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and serine. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with RYR2-related conditions. This variant is not present in population databases (ExAC no frequency).
Ambry Genetics RCV002418665 SCV002678214 uncertain significance Cardiovascular phenotype 2019-03-21 criteria provided, single submitter clinical testing The p.T27S variant (also known as c.80C>G), located in coding exon 2 of the RYR2 gene, results from a C to G substitution at nucleotide position 80. The threonine at codon 27 is replaced by serine, an amino acid with similar properties. This amino acid position is well 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 RCV002484075 SCV002789815 uncertain significance Arrhythmogenic right ventricular dysplasia 2; Catecholaminergic polymorphic ventricular tachycardia 1; Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 2022-04-06 criteria provided, single submitter clinical testing

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