ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2597A>C (p.Glu866Ala)

dbSNP: rs951742543
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001213620 SCV001385258 uncertain significance Glycogen storage disease, type II 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with alanine at codon 866 of the GAA protein (p.Glu866Ala). The glutamic acid residue is weakly conserved and there is a moderate physicochemical difference between glutamic acid and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with GAA-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Revvity Omics, Revvity RCV003130188 SCV003810572 uncertain significance not provided 2021-11-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV003294028 SCV004001310 uncertain significance Cardiovascular phenotype 2023-04-08 criteria provided, single submitter clinical testing The p.E866A variant (also known as c.2597A>C), located in coding exon 17 of the GAA gene, results from an A to C substitution at nucleotide position 2597. The glutamic acid at codon 866 is replaced by alanine, an amino acid with dissimilar 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. RCV001213620 SCV002094473 uncertain significance Glycogen storage disease, type II 2021-09-13 no assertion criteria provided clinical testing

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