ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.3836G>C (p.Ser1279Thr)

gnomAD frequency: 0.00006  dbSNP: rs751419465
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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 RCV002529935 SCV000760677 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002358807 SCV002621656 uncertain significance Cardiovascular phenotype 2023-11-13 criteria provided, single submitter clinical testing The p.S1279T variant (also known as c.3836G>C), located in coding exon 31 of the RYR2 gene, results from a G to C substitution at nucleotide position 3836. The serine at codon 1279 is replaced by threonine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV003328611 SCV004035369 uncertain significance not provided 2023-03-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Not located in one of the three hot-spot regions of the RYR2 gene, where the majority of pathogenic missense variants occur (Medeiros-Domingo et al., 2009)

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