ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.13293A>G (p.Glu4431=)

gnomAD frequency: 0.00004  dbSNP: rs778248995
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586991 SCV000697607 benign not provided 2016-11-28 criteria provided, single submitter clinical testing Variant summary: The RYR2 c.13293A>G (p.Glu4431Glu) 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. However, these predictions have yet to be confirmed by functional studies. This variant was found in 3/46966 control chromosomes at a frequency of 0.0000639, which is approximately 3 times the estimated maximal expected allele frequency of a pathogenic RYR2 variant (0.000025), suggesting this variant is likely a benign polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
Invitae RCV002530912 SCV001031998 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2023-01-16 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001178190 SCV001342569 likely benign Cardiomyopathy 2019-02-25 criteria provided, single submitter clinical testing

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