ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1651_1656del (p.Thr551_Leu552del)

dbSNP: rs2510378477
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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 RCV003503071 SCV004318224 pathogenic Glycogen storage disease, type II 2023-08-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the GAA protein in which other variant(s) (p.Leu552Pro) have been determined to be pathogenic (PMID: 14695532, 17616415, 18607768, 19588081, 20638881). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with GAA-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.1651_1656del, results in the deletion of 2 amino acid(s) of the GAA protein (p.Thr551_Leu552del), but otherwise preserves the integrity of the reading frame.

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