ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.6793-4G>T

dbSNP: rs568936247
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001191322 SCV001359097 uncertain significance Cardiomyopathy 2019-07-20 criteria provided, single submitter clinical testing This variant is located in intron 44 of the RYR2 gene. Computational splicing tools and conservation analyses are inconclusive regarding the impact of this variant on RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 5/280480 chromosomes in the general population by the Genome Aggregation Database (gnomAD). 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003317104 SCV004020765 uncertain significance not specified 2023-06-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV003372624 SCV004094502 uncertain significance Cardiovascular phenotype 2023-06-28 criteria provided, single submitter clinical testing The c.6793-4G>T intronic variant results from a G to T substitution 4 nucleotides upstream from coding exon 45 in the RYR2 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Blueprint Genetics RCV000157459 SCV000207203 uncertain significance Primary familial hypertrophic cardiomyopathy 2014-04-17 no assertion criteria provided clinical testing

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