ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.751dup (p.Val251fs)

dbSNP: rs1575410881
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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 RCV001296160 SCV001485116 uncertain significance 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. 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. ClinVar contains an entry for this variant (Variation ID: 1000075). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val251Glyfs*23) in the DAG1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 645 amino acid(s) of the DAG1 protein.

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