ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.799_803delinsA (p.Leu267fs)

dbSNP: rs2039120342
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001239370 SCV001412241 pathogenic Glycogen storage disease, type II 2023-05-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with Pompe disease (PMID: 30155607). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change creates a premature translational stop signal (p.Leu267Serfs*46) 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).
Revvity Omics, Revvity RCV001785798 SCV002021177 pathogenic not provided 2019-07-25 criteria provided, single submitter clinical testing

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