ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1089G>A (p.Met363Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital RCV003110174 SCV003762177 uncertain significance Glycogen storage disease, type II criteria provided, single submitter clinical testing This variant has been identified incidentally in a heterozygous state with another variant in the GAA gene in a patient with a phenotype different from Pompe disease.

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