ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.14703G>C (p.Val4901=) (rs201371633)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619036 SCV000735718 likely benign Cardiovascular phenotype 2016-11-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000771788 SCV000904474 likely benign Cardiomyopathy 2018-08-17 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153880 SCV000203489 uncertain significance not provided 2014-01-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000378694 SCV000356495 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000279576 SCV000356496 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000780696 SCV000918177 likely benign not specified 2017-12-04 criteria provided, single submitter clinical testing Variant summary: The RYR2 c.14703G>C (p.Val4901Val) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect ESE site of SF2/ASF and SC35. However, these predictions have yet to be confirmed by functional studies. This variant was found in 36/277032 control chromosomes at a frequency of 0.0001299, which is approximately 2 times the estimated maximal expected allele frequency of a pathogenic RYR2 variant (0.000055), suggesting this variant is likely a benign polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals via publications, nor evaluated for functional impact by in vivo/vitro studies. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as uncertain significance. Taken together, this variant is classified as likely benign.
Invitae RCV000378694 SCV000760732 likely benign Catecholaminergic polymorphic ventricular tachycardia 2018-01-04 criteria provided, single submitter clinical testing

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