ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2365C>G (p.Pro789Ala)

gnomAD frequency: 0.00003  dbSNP: rs201485261
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000376105 SCV000345047 uncertain significance not provided 2016-09-26 criteria provided, single submitter clinical testing
Invitae RCV001850469 SCV002119388 uncertain significance Glycogen storage disease, type II 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 789 of the GAA protein (p.Pro789Ala). This variant is present in population databases (rs201485261, gnomAD 0.0009%). 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: 290483). 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.
Ambry Genetics RCV003165777 SCV003857461 uncertain significance Cardiovascular phenotype 2023-01-07 criteria provided, single submitter clinical testing The p.P789A variant (also known as c.2365C>G), located in coding exon 16 of the GAA gene, results from a C to G substitution at nucleotide position 2365. The proline at codon 789 is replaced by alanine, 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.

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