Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CHEO Genetics Diagnostic Laboratory, |
RCV001799128 | SCV002042423 | likely pathogenic | Cardiomyopathy | 2020-03-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002541257 | SCV003351366 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2022-05-06 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 16 of the TTN gene. It is expected to disrupt RNA splicing and likely results in a truncated or disrupted TTN protein. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with TTN-related conditions. ClinVar contains an entry for this variant (Variation ID: 1326923). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant is located in the Z band of TTN (PMID: 25589632). Variants in this region may be clinically relevant, but have not been definitively shown to cause cardiomyopathy or neuromuscular disease (PMID: 27493940, 32778822). |
Clinical Genetics Laboratory, |
RCV001787308 | SCV002029200 | uncertain significance | Tibial muscular dystrophy | 2021-10-20 | no assertion criteria provided | clinical testing |