ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2702dup (p.Gln902fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002870711 SCV003221367 pathogenic Glycogen storage disease, type II 2022-07-19 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the GAA gene (p.Gln902Alafs*116). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 51 amino acid(s) of the GAA protein and extend the protein by 64 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GAA-related conditions. This variant disrupts a region of the GAA protein in which other variant(s) (p.Tyr928Cys) have been determined to be pathogenic (PMID: 22252923, 29122469, 31606152, 33741225). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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