ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1798C>T (p.Arg600Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000794042 SCV000933425 pathogenic Glycogen storage disease, type II 2018-12-24 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 600 of the GAA protein (p.Arg600Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs764670084, ExAC 0.006%). This variant has been observed in combination with another GAA variant in several individuals affected with Pompe disease (PMID: 29124014, 11053688, 20202878, 25213570, 27344650, 29044175). This variant has been reported to affect GAA protein function (PMID: 11053688). For these reasons, this variant has been classified as Pathogenic.

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