Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000800421 | SCV000940136 | pathogenic | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2018-12-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant is located in the A band of TTN (PMID: 25589632). Truncating variants in this region are significantly overrepresented in patients affected with dilated cardiomyopathy (PMID: 25589632). Truncating variants in this region have also been reported in individuals affected with autosomal recessive centronuclear myopathy (PMID: 23975875). This variant has been observed in individuals affected with DCM (PMID: 22335739, Invitae). This variant is also known as c.79896G>A (p.Trp26632X) in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the TTN gene (p.Trp28273*). While this is not anticipated to result in nonsense mediated decay, it is expected to create a truncated TTN protein. |
CHEO Genetics Diagnostic Laboratory, |
RCV003486932 | SCV004240141 | pathogenic | Cardiomyopathy | 2023-03-21 | criteria provided, single submitter | clinical testing |