ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2109C>A (p.Tyr703Ter)

dbSNP: rs150728610
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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 RCV001946756 SCV002236257 pathogenic Glycogen storage disease, type II 2021-05-13 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 create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This nonsense change has been observed in individual(s) with Pompe disease (PMID: 30155607). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr703*) 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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