ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1826dup (p.Tyr609Ter) (rs786204727)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169565 SCV000221062 likely pathogenic Glycogen storage disease, type II 2015-01-22 criteria provided, single submitter literature only
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727554 SCV000854784 pathogenic not provided 2018-08-20 criteria provided, single submitter clinical testing
Invitae RCV000169565 SCV001228766 pathogenic Glycogen storage disease, type II 2019-12-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr609*) in the GAA gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs754952153, ExAC 0.003%). This nonsense change has been observed in individual(s) with Pompe disease (PMID: 12897283, 25846667, 29124014, 24269976). ClinVar contains an entry for this variant (Variation ID: 189144). Loss-of-function variants in GAA are known to be pathogenic (PMID: 18425781, 22252923). For these reasons, this variant has been classified as Pathogenic.

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