ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1525C>T (p.Gln509Ter)

dbSNP: rs2510374041
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital RCV003234748 SCV003932433 likely pathogenic Glycogen storage disease, type II 2023-06-15 criteria provided, single submitter clinical testing The heterozygous variant c.1524C>T (p.Gln509*) has been identified as a compound heterozygous state with the variant c.1820G>A (p.Gly607Asp) . Phenotypes observed in the proband were cardiomegaly, feeding difficulties, delayed milestones, hepatomegaly and severe LV hypertrophy with severe LV dysfunction. This variant has been reported previously PMID: 31057599.

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