ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1447G>A (p.Gly483Arg) (rs770590394)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000278497 SCV000338058 uncertain significance not provided 2015-12-08 criteria provided, single submitter clinical testing
Counsyl RCV000664619 SCV000788614 likely pathogenic Glycogen storage disease, type II 2017-04-28 criteria provided, single submitter clinical testing
Invitae RCV000664619 SCV000831059 pathogenic Glycogen storage disease, type II 2018-12-28 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 483 of the GAA protein (p.Gly483Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs770590394, ExAC 0.01%). This variant has been observed to segregate with Pompe disease in a family (PMID: 23000108), and has been reported in several individuals affected with Pompe disease (PMID: 18425781, 19588081, 21972175, 29122469). ClinVar contains an entry for this variant (Variation ID: 285157). Experimental studies have shown that this missense change results in reduced GAA enzymatic activity (PMID: 18425781, 23000108). For these reasons, this variant has been classified as Pathogenic.

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