ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1610del (p.Glu537fs)

gnomAD frequency: 0.00001  dbSNP: rs762060817
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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 RCV001937792 SCV002184993 pathogenic Glycogen storage disease, type II 2023-06-06 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: 1407438). This premature translational stop signal has been observed in individual(s) with Pompe disease (PMID: 33560568; Invitae). This variant is present in population databases (rs762060817, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Glu537Glyfs*41) 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).
CeGaT Center for Human Genetics Tuebingen RCV003458105 SCV004185085 pathogenic not provided 2023-11-01 criteria provided, single submitter clinical testing GAA: PVS1, PM3:Strong, PM2

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