ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.6298C>T (p.Arg2100Trp) (rs753164125)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000781823 SCV000920163 uncertain significance not specified 2018-06-04 criteria provided, single submitter clinical testing Variant summary: RYR2 c.6298C>T (p.Arg2100Trp) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 2e-05 in 246108 control chromosomes. The observed variant frequency is close to the estimated maximal expected allele frequency for a pathogenic variant in RYR2 causing Cardiomyopathy (0.000025), suggesting that the variant is possibly benign. Although the total number of occurrence is small. To our knowledge, no occurrence of c.6298C>T 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 uncertain significance.

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