ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2078dup (p.Ala694fs)

dbSNP: rs730880372
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733261 SCV000861306 pathogenic not provided 2018-05-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV000156940 SCV005058728 pathogenic Glycogen storage disease, type II 2024-03-16 criteria provided, single submitter clinical testing
GeneDx RCV000733261 SCV005325584 pathogenic not provided 2023-06-26 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 31254424, 23360637, 27927596, 31101460, 31125121, 27344650, 27649523, 30105547, 31342611)
Fulgent Genetics, Fulgent Genetics RCV000156940 SCV005653235 pathogenic Glycogen storage disease, type II 2024-02-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000156940 SCV005837498 pathogenic Glycogen storage disease, type II 2024-02-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala694Glyfs*43) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Pompe disease (PMID: 27344650). ClinVar contains an entry for this variant (Variation ID: 180143). For these reasons, this variant has been classified as Pathogenic.
Medical Genetic Department, Shiraz University Of Medical Science RCV000156940 SCV000206661 pathogenic Glycogen storage disease, type II no assertion criteria provided clinical testing

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