Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000245742 | SCV000320504 | uncertain significance | Cardiovascular phenotype | 2020-01-14 | criteria provided, single submitter | clinical testing | The p.I18297V variant (also known as c.54889A>G), located in coding exon 153 of the TTN gene, results from an A to G substitution at nucleotide position 54889. The isoleucine at codon 18297 is replaced by valine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrates; however, valine is the reference amino acid in other 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. |
Invitae | RCV000476591 | SCV000542897 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2018-01-11 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001798758 | SCV002043004 | uncertain significance | Cardiomyopathy | 2020-06-25 | criteria provided, single submitter | clinical testing |