ClinVar Miner

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

dbSNP: rs1553652503
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000648792 SCV000770613 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2022-08-16 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with DAG1-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the DAG1 protein in which other variant(s) (p.Phe152Leufs*3) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 539125). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln147Argfs*21) in the DAG1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 749 amino acid(s) of the DAG1 protein.

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