ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.897C>A (p.Ile299=)

dbSNP: rs150365056
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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 RCV001996719 SCV002218530 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2021-09-24 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with DAG1-related conditions. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant is present in population databases (rs150365056, ExAC 0.02%). This sequence change affects codon 299 of the DAG1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the DAG1 protein.

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