ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.2215_2216del (p.Arg739fs)

dbSNP: rs2107952051
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001362845 SCV001558888 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2020-10-23 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the DAG1 gene (p.Arg739Glyfs*3). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 157 amino acid(s) 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 conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238361 SCV002010673 likely pathogenic not provided 2021-11-03 criteria provided, single submitter clinical testing

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