ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2227C>T (p.Gln743Ter)

dbSNP: rs1057516277
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410278 SCV000485400 likely pathogenic Glycogen storage disease, type II 2016-09-09 criteria provided, single submitter clinical testing
Invitae RCV000410278 SCV000957867 pathogenic Glycogen storage disease, type II 2023-09-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln743*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with glycogen storage disease (PMID: 18285536). ClinVar contains an entry for this variant (Variation ID: 370157). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000410278 SCV004197867 pathogenic Glycogen storage disease, type II 2023-02-26 criteria provided, single submitter clinical testing

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