ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.210C>T (p.Gly70=)

dbSNP: rs2107648464
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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 RCV001369424 SCV001565864 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2020-02-19 criteria provided, single submitter clinical testing This sequence change affects codon 70 of the DAG1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the DAG1 protein. 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 conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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