ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1727G>A (p.Gly576Asp)

dbSNP: rs1555601255
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000631054 SCV000752043 uncertain significance Glycogen storage disease, type II 2017-10-17 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 576 of the GAA protein (p.Gly576Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with Pompe disease (PMID: 18425781). Experimental studies have shown that this missense leads to sub celular mislocalization of the GAA protein and its loss of enzymatic activity (PMID: 18425781). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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