ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.930del (p.Phe311fs)

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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 RCV003609131 SCV004465404 pathogenic Glycogen storage disease, type II 2023-05-16 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with GAA-related conditions. This sequence change creates a premature translational stop signal (p.Phe311Serfs*3) in the GAA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GAA are known to be pathogenic (PMID: 18425781, 22252923).

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