ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.686G>A (p.Arg229His)

gnomAD frequency: 0.00003  dbSNP: rs776509432
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000817672 SCV000958249 uncertain significance Glycogen storage disease, type II 2024-01-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 229 of the GAA protein (p.Arg229His). This variant is present in population databases (rs776509432, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with GAA-related conditions. ClinVar contains an entry for this variant (Variation ID: 660473). 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 with a negative predictive value of 95%. 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 RCV000817672 SCV002792053 uncertain significance Glycogen storage disease, type II 2021-10-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003132095 SCV003810574 uncertain significance not provided 2023-08-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV000817672 SCV001453595 uncertain significance Glycogen storage disease, type II 2020-09-16 no assertion criteria provided clinical testing

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