ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.2660G>A (p.Arg887Gln)

gnomAD frequency: 0.00004  dbSNP: rs776025512
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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 RCV001910790 SCV002163445 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2021-06-30 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with DAG1-related conditions. This variant is present in population databases (rs776025512, ExAC 0.006%). This sequence change replaces arginine with glutamine at codon 887 of the DAG1 protein (p.Arg887Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). 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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