ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1226_1227insG (p.Asp409fs)

dbSNP: rs1598578030
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University RCV000791249 SCV000925969 pathogenic Glycogen storage disease, type II 2019-07-10 no assertion criteria provided clinical testing The GAA c.1226_1227insG (p.D409Gfs*95) variant results in a frameshift, and is predicted to result in truncated peptide lacking most of the catalytic domain, including the two catalytic residues (p.D518 and p.D616). The frame shift mutation allele was reported to fall into severe class A mutation. Severity of novel mutations identified was determined by a rating system as described by Kroos et al. 2008. In our study, this variant was found in combination with the p.N675del in infantile-onset Pompe disease (IOPD), which exhibited complete loss of GAA activity. Due to the potential impact of frame shift variants and along with our evidence, we interpret c.1226_1227insG (p.D409Gfs*95) variant is classified as pathogenic for Pompe disease.

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