ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2598A>C (p.Glu866Asp)

gnomAD frequency: 0.00001  dbSNP: rs1445358978
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000821318 SCV000962072 uncertain significance Glycogen storage disease, type II 2022-02-05 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 866 of the GAA protein (p.Glu866Asp). This variant is not present in population databases (gnomAD no frequency). 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: 663449). 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.
GeneDx RCV002290469 SCV002578561 uncertain significance not provided 2022-04-07 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function
Ambry Genetics RCV002537500 SCV003526649 uncertain significance Inborn genetic diseases 2022-09-16 criteria provided, single submitter clinical testing The c.2598A>C (p.E866D) alteration is located in exon 18 (coding exon 17) of the GAA gene. This alteration results from a A to C substitution at nucleotide position 2598, causing the glutamic acid (E) at amino acid position 866 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000821318 SCV001463865 uncertain significance Glycogen storage disease, type II 2020-09-16 no assertion criteria provided clinical testing

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