ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.7386A>G (p.Pro2462=) (rs546545700)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000875571 SCV001018015 benign Catecholaminergic polymorphic ventricular tachycardia 2019-12-31 criteria provided, single submitter clinical testing
Color RCV001190654 SCV001358207 benign Cardiomyopathy 2019-07-02 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV001194073 SCV001363331 benign not specified 2019-02-11 criteria provided, single submitter clinical testing Variant summary: RYR2 c.7386A>G alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 9.6e-05 in 272004 control chromosomes. The observed variant frequency is approximately 4 fold of the estimated maximal expected allele frequency for a pathogenic variant in RYR2 causing Cardiomyopathy phenotype (2.5e-05), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.7386A>G in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as benign.

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