ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.235C>T (p.Arg79Ter)

dbSNP: rs1334656238
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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 RCV000810927 SCV000951168 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2022-10-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg79*) in the DAG1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DAG1 are known to be pathogenic (PMID:22237435, 10875918). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 654870). This variant has not been reported in the literature in individuals affected with DAG1-related conditions.

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