ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.751del (p.Val251fs)

dbSNP: rs1575410881
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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 RCV000824026 SCV000964901 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2020-11-30 criteria provided, single submitter clinical testing 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 disrupts a region of the protein in which other variant(s) (p.Cys669Phe) have been observed in individuals with DAG1-related conditions (PMID: 24052401). This suggests that this may be a clinically significant region of the DAG1 protein. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has not been reported in the literature in individuals with DAG1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the DAG1 gene (p.Val251Trpfs*16). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 227 amino acids of the DAG1 protein.
Baylor Genetics RCV003333112 SCV004040762 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2P 2023-05-31 criteria provided, single submitter clinical testing

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