ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.684C>T (p.Leu228=) (rs72549417)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036782 SCV000060437 likely benign not specified 2012-08-03 criteria provided, single submitter clinical testing Leu228Leu in exon 10 of RYR2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. This variant has been listed in dbSNP without frequency information (dbSNP rs72549417). Leu228Leu in exon 10 of RYR2 (rs72549 417; allele frequency = n/a)
Illumina Clinical Services Laboratory,Illumina RCV000265346 SCV000356195 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000322745 SCV000356196 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000589666 SCV000554613 likely benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589666 SCV000697629 benign not provided 2016-12-05 criteria provided, single submitter clinical testing Variant summary: The RYR2 c.684C>T (p.Leu228Leu) variant causes a synonymous change involving a non-conserved nucleotide, which 5/5 splice prediction tools predict no significant impact on normal splicing, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 9/118872 (1/13208), predominantly in the East Asian cohort, 7/8564 (1/1223), which is about 15 times the estimated maximal expected allele frequency for a pathogenic RYR2 variant of 1/18181. Therefore, suggesting this is likely a benign polymorphism found primarily in the populations of East Asian origin. In addition, one clinical diagnostic laboratory/reputable database has classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications. Taken together, this variant has been classified as Benign.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768754 SCV000900124 likely benign Cardiomyopathy 2017-08-24 criteria provided, single submitter clinical testing
Color RCV000768754 SCV000903655 likely benign Cardiomyopathy 2018-07-02 criteria provided, single submitter clinical testing

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