ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.1471G>A (p.Gly491Arg)

gnomAD frequency: 0.00006  dbSNP: rs199728911
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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 RCV001217575 SCV001389421 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2023-10-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004034037 SCV004852957 uncertain significance Inborn genetic diseases 2023-12-27 criteria provided, single submitter clinical testing The c.1471G>A (p.G491R) alteration is located in exon 3 (coding exon 2) of the DAG1 gene. This alteration results from a G to A substitution at nucleotide position 1471, causing the glycine (G) at amino acid position 491 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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