Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000533805 | SCV000650625 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 | 2022-07-06 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the C-terminus of the DAG1 protein. Other variant(s) that disrupt this region (p.A248Glufs*19) have been observed in individuals with DAG1-related conditions (PMID: 25934851). This suggests that this may be a clinically significant region of the protein. ClinVar contains an entry for this variant (Variation ID: 471776). This variant has not been reported in the literature in individuals affected with DAG1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Phe152Leufs*3) in the DAG1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 744 amino acid(s) of the DAG1 protein. |