Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001246589 | SCV001419952 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 | 2022-07-25 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). 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 disrupts a region of the DAG1 protein in which other variant(s) (p.Cys669Phe) have been observed in individuals with DAG1-related conditions (PMID: 24052401). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. 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 affected with DAG1-related conditions. This sequence change creates a premature translational stop signal (p.Gly584Serfs*37) in the DAG1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 312 amino acids of the DAG1 protein. |