Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001869287 | SCV002147148 | uncertain significance | Dilated Cardiomyopathy, Dominant | 2020-11-02 | criteria provided, single submitter | clinical testing | 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with CTF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 689586). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Ala156Argfs*82) in the CTF1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 46 amino acid(s) of the CTF1 protein. |
Institute of Human Genetics, |
RCV000850341 | SCV000992517 | uncertain significance | Primary dilated cardiomyopathy | no assertion criteria provided | clinical testing |