ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2362C>A (p.Pro788Thr)

dbSNP: rs2039384789
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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 RCV001051683 SCV001215851 uncertain significance Glycogen storage disease, type II 2023-03-07 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 848022). This variant has not been reported in the literature in individuals affected with GAA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 788 of the GAA protein (p.Pro788Thr).
Ambry Genetics RCV002445272 SCV002733209 uncertain significance Cardiovascular phenotype 2022-05-06 criteria provided, single submitter clinical testing The p.P788T variant (also known as c.2362C>A), located in coding exon 16 of the GAA gene, results from a C to A substitution at nucleotide position 2362. The proline at codon 788 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001051683 SCV001463859 uncertain significance Glycogen storage disease, type II 2020-09-16 no assertion criteria provided clinical testing

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