ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1134C>A (p.Tyr378Ter)

dbSNP: rs1567830317
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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 RCV001382744 SCV001581647 pathogenic Glycogen storage disease, type II 2022-03-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1070552). This premature translational stop signal has been observed in individual(s) with Pompe disease (PMID: 18425781, 29181627). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr378*) 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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