ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.1453_1454insC (p.Ser485fs)

dbSNP: rs2107938946
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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 RCV001364580 SCV001560736 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2020-02-19 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC 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 has not been reported in the literature in individuals with DAG1-related conditions. This sequence change results in a premature translational stop signal in the DAG1 gene (p.Ser485Thrfs*20). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 411 amino acids of the DAG1 protein.

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