ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.440del (p.Gln147fs) (rs1553652503)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000648792 SCV000770613 pathogenic Limb-girdle muscular dystrophy-dystroglycanopathy, type C9; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 2017-09-15 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the DAG1 gene (p.Gln147Argfs*21). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 749 amino acids of the DAG1 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DAG1-related disease. A different truncation downstream of this variant (p.Phe152Leufs*3) has been determined to be pathogenic (Invitae database). This suggests that deletion of this region of the DAG1 protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.

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