ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2269C>T (p.Gln757Ter) (rs200483245)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664955 SCV000788999 pathogenic Glycogen storage disease, type II 2017-01-03 criteria provided, single submitter clinical testing
GeneDx RCV000493446 SCV000582366 pathogenic not provided 2015-09-03 criteria provided, single submitter clinical testing The Q757X nonsense pathogenic variant in the GAA gene has been reported previously in a patient with adult-onsetGSDII, who also harbored the common c.-32-13 T>G variant (McCready et al., 2007). This pathogenic variant ispredicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNAdecay. The Q757X pathogenic variant was not observed in approximately 6,500 individuals of European and AfricanAmerican ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in thesepopulations

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