ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2431dup (p.Leu811fs)

dbSNP: rs2143925402
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001783325 SCV002023801 pathogenic not provided 2022-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002034563 SCV002172832 pathogenic Glycogen storage disease, type II 2023-04-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1322950). This premature translational stop signal has been observed in individual(s) with Pompe disease (PMID: 10737124). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu811Profs*73) 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).
Baylor Genetics RCV002034563 SCV005058760 pathogenic Glycogen storage disease, type II 2023-12-24 criteria provided, single submitter clinical testing

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