ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2185del (p.Leu729fs) (rs1057516581)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412465 SCV000485900 likely pathogenic Glycogen storage disease, type II 2016-02-26 criteria provided, single submitter clinical testing
Invitae RCV000412465 SCV000937166 pathogenic Glycogen storage disease, type II 2018-12-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu729Trpfs*35) 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 observed to be homozygous or in combination with another GAA variant in individuals affected with glycogen storage disease (PMID: 19588081, 28394184). ClinVar contains an entry for this variant (Variation ID: 370552). 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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