ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.41C>A (p.Ser14Ter)

dbSNP: rs2131107
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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 RCV001386974 SCV001587433 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2017-11-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser14*) in the DAG1 gene. It is expected to result in an absent or disrupted protein product. 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 disease. Loss-of-function variants in DAG1 are known to be pathogenic (PMID: 25934851). For these reasons, this variant has been classified as Pathogenic.

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