Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002537992 | SCV000937966 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2023-10-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003307449 | SCV004009347 | uncertain significance | Cardiovascular phenotype | 2023-05-22 | criteria provided, single submitter | clinical testing | The p.S525C variant (also known as c.1574C>G), located in coding exon 16 of the RYR2 gene, results from a C to G substitution at nucleotide position 1574. The serine at codon 525 is replaced by cysteine, an amino acid with dissimilar properties. This variant was detected in an arrhythmia genetic testing cohort; however, clinical details were limited, and additional cardiac variants were detected in some cases (van Lint FHM et al. Neth Heart J, 2019 Jun;27:304-309). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Clinical Genetics, |
RCV001698773 | SCV001917065 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Diagnostic Laboratory, |
RCV001698773 | SCV001963258 | uncertain significance | not provided | no assertion criteria provided | clinical testing |