ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1976_1977del (p.Val659fs)

dbSNP: rs2143892473
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001384992 SCV001584699 pathogenic Glycogen storage disease, type II 2022-01-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 sequence change creates a premature translational stop signal (p.Val659Alafs*77) 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 RCV003145651 SCV003832462 likely pathogenic not provided 2022-03-03 criteria provided, single submitter clinical testing

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