ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1396dup (p.Val466fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003468237 SCV004197906 pathogenic Glycogen storage disease, type II 2022-06-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003468237 SCV004296869 pathogenic Glycogen storage disease, type II 2023-12-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val466Glyfs*40) 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 present in population databases (no rsID available, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with Pompe disease (PMID: 22595200, 31342611, 34501319, 34864681). For these reasons, this variant has been classified as Pathogenic.

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