ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2140del (p.His714fs) (rs786204549)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169264 SCV000220555 likely pathogenic Glycogen storage disease, type II 2014-07-25 criteria provided, single submitter literature only
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725052 SCV000333554 pathogenic not provided 2015-08-12 criteria provided, single submitter clinical testing
Invitae RCV000169264 SCV000626534 pathogenic Glycogen storage disease, type II 2017-07-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His714Thrfs*50) in the GAA gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with Pompe disease (PMID: 17723315). ClinVar contains an entry for this variant (Variation ID: 188904). Loss-of-function variants in GAA are known to be pathogenic (PMID: 2252923, 18425781). For these reasons, this variant has been classified as Pathogenic.

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