Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CHEO Genetics Diagnostic Laboratory, |
RCV000769854 | SCV000901280 | uncertain significance | Cardiomyopathy | 2016-09-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002388388 | SCV002668606 | uncertain significance | Cardiovascular phenotype | 2022-07-05 | criteria provided, single submitter | clinical testing | The c.74899_74901dupTAT variant (also known as p.Y24967dup), located in coding exon 185 of the TTN gene, results from an in-frame duplication of TAT at nucleotide positions 74899 to 74901. This results in the duplication of an extra residue between codons 24967 and 24968. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Revvity Omics, |
RCV003141752 | SCV003825526 | uncertain significance | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing |