ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2284G>T (p.Glu762Ter)

dbSNP: rs760063214
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001208814 SCV001380222 pathogenic Glycogen storage disease, type II 2019-06-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu762*) in the GAA gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in GAA are known to be pathogenic (PMID: 18425781, 22252923). This variant has not been reported in the literature in individuals with GAA-related conditions. This variant is not present in population databases (ExAC no frequency).

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