ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1241del (p.Phe414fs)

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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 RCV003502025 SCV004296865 pathogenic Glycogen storage disease, type II 2023-11-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe414Serfs*26) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Pompe disease (PMID: 28394184). For these reasons, this variant has been classified as Pathogenic.

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