Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000391467 | SCV000356481 | uncertain significance | Catecholaminergic polymorphic ventricular tachycardia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000297957 | SCV000356482 | uncertain significance | Arrhythmogenic right ventricular cardiomyopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000586624 | SCV000697610 | uncertain significance | not provided | 2017-03-20 | criteria provided, single submitter | clinical testing | Variant summary: The RYR2 c.13957-5C>G variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 4/5 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 3/88482 control chromosomes at a frequency of 0.0000339, which approximately equals the estimated maximal expected allele frequency of a pathogenic RYR2 variant (0.000025), suggesting this variant is likely a benign polymorphism. However, the small number of carriers in this population is too small to unequivocally classify this variant as benign. One clinical diagnostic laboratory/reputable database has classified this variant as uncertain significance. 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. Taken together, this variant is classified as a VUS - possibly benign variant. |
Invitae | RCV002520480 | SCV000941435 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002392830 | SCV002701673 | uncertain significance | Cardiovascular phenotype | 2021-05-27 | criteria provided, single submitter | clinical testing | The c.13957-5C>G intronic variant results from a C to G substitution 5 nucleotides upstream from coding exon 97 in the RYR2 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |