ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.6799C>T (p.Arg2267Cys)

gnomAD frequency: 0.00001  dbSNP: rs554220274
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000774094 SCV000907794 uncertain significance Cardiomyopathy 2019-10-08 criteria provided, single submitter clinical testing This missense variant replaces arginine with cysteine at codon 2267 of the RYR2 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 2/248996 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.
Ambry Genetics RCV003362934 SCV004054090 uncertain significance Cardiovascular phenotype 2023-08-09 criteria provided, single submitter clinical testing The p.R2267C variant (also known as c.6799C>T), located in coding exon 45 of the RYR2 gene, results from a C to T substitution at nucleotide position 6799. The arginine at codon 2267 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is not 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.

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