ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.175G>T (p.Glu59Ter)

dbSNP: rs767737417
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760900 SCV000890796 likely pathogenic not provided 2018-12-20 criteria provided, single submitter clinical testing The E59X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The E59X variant is not observed in large population cohorts (Lek et al., 2016). The E59X nonsense variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Labcorp Genetics (formerly Invitae), Labcorp RCV001855933 SCV002309216 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2021-08-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu59*) in the DAG1 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in DAG1 cause disease. 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. ClinVar contains an entry for this variant (Variation ID: 620516). This variant has not been reported in the literature in individuals affected with DAG1-related conditions.

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