Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000552951 | SCV000642998 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-04-05 | criteria provided, single submitter | clinical testing | This variant identified in the TTN gene is located in the Z band of the resulting protein (PMID: 25589632). In summary, although this is a novel truncating variant in the Z band, truncating variants in this region have been shown to be highly prevalent in the TTN gene in the general population and unaffected individuals (PMID: 26701604, 22335739). As a result, this truncation is located outside of a clinically relevant region of the TTN gene (PMID: 25589632). For these reasons it has been classified as a Variant of Uncertain Significance. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a TTN-related disease. This sequence change creates a premature translational stop signal at codon 1103 (p.Cys1103*) of the TTN gene. It is expected to result in a disrupted protein product. |