ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.378G>A (p.Trp126Ter)

dbSNP: rs2039041225
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001207151 SCV001378491 pathogenic Glycogen storage disease, type II 2022-06-22 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with Pompe disease (PMID: 24269976). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp126*) 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). ClinVar contains an entry for this variant (Variation ID: 938008). 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.
Baylor Genetics RCV001207151 SCV004195495 pathogenic Glycogen storage disease, type II 2023-09-04 criteria provided, single submitter clinical testing

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