ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.532C>T (p.Arg178Cys)

gnomAD frequency: 0.00001  dbSNP: rs762439362
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000631087 SCV000752080 uncertain significance Glycogen storage disease, type II 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 178 of the GAA protein (p.Arg178Cys). This variant is present in population databases (rs762439362, gnomAD 0.02%). This missense change has been observed in individual(s) with Pompe disease (PMID: 18425781). ClinVar contains an entry for this variant (Variation ID: 526537). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt GAA protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV000631087 SCV002784935 uncertain significance Glycogen storage disease, type II 2021-11-07 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV003129951 SCV003810570 uncertain significance not provided 2021-09-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV000631087 SCV001453588 uncertain significance Glycogen storage disease, type II 2020-09-16 no assertion criteria provided clinical testing

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