Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
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, |
RCV001178190 | SCV001342569 | likely benign | Cardiomyopathy | 2019-02-25 | criteria provided, single submitter | clinical testing |