ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.309C>A (p.Cys103Ter)

dbSNP: rs373307393
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001783338 SCV002023869 pathogenic not provided 2020-04-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003502608 SCV004297575 pathogenic Glycogen storage disease, type II 2023-08-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys103*) 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 clinical features of Pompe disease (PMID: 14695532). ClinVar contains an entry for this variant (Variation ID: 1322963). For these reasons, this variant has been classified as Pathogenic.

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