ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.505C>G (p.Arg169Gly)

dbSNP: rs749930577
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002335778 SCV002642740 likely pathogenic Cardiovascular phenotype 2017-10-13 criteria provided, single submitter clinical testing The p.R169G variant (also known as c.505C>G), located in coding exon 8 of the RYR2 gene, results from a C to G substitution at nucleotide position 505. The arginine at codon 169 is replaced by glycine, an amino acid with dissimilar properties. Other alterations affecting this amino acid (p.R169Q and p.R169L) have been reported in individuals with catecholaminergic polymorphic ventricular tachycardia also known as CPVT (Ohno S et al PLoS ONE 2015 Jun;10(6):e131517). This amino acid position is highly conserved in available vertebrate species. This variant is considered to be deleterious by internal structural analysis. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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