ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.732G>C (p.Gln244His)

gnomAD frequency: 0.00001  dbSNP: rs1178922366
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001359163 SCV001555025 likely pathogenic Glycogen storage disease, type II 2024-02-11 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 244 of the GAA protein (p.Gln244His). This variant is present in population databases (no rsID available, gnomAD 0.003%). This missense change has been observed in individual(s) with clinical features of Pompe disease (Invitae). ClinVar contains an entry for this variant (Variation ID: 1051165). 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 expected to disrupt GAA protein function with a positive predictive value of 95%. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Revvity Omics, Revvity RCV003132459 SCV003816213 uncertain significance not provided 2020-02-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001359163 SCV002091960 uncertain significance Glycogen storage disease, type II 2020-11-10 no assertion criteria provided clinical testing

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