ClinVar Miner

Submissions for variant NM_000642.3(AGL):c.854G>A (p.Arg285Gln) (rs144817648)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434478 SCV000527439 uncertain significance not provided 2018-02-14 criteria provided, single submitter clinical testing The R285Q variant in the AGL gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R285Q variant was not observed at any significant frequency in approximately 6,300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R285Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret R285Q as a variant of uncertain significance.
Invitae RCV000548159 SCV000626770 uncertain significance Glycogen storage disease type III 2020-10-28 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 285 of the AGL protein (p.Arg285Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs144817648, ExAC 0.04%). This variant has not been reported in the literature in individuals with AGL-related disease. ClinVar contains an entry for this variant (Variation ID: 385974). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: Tolerated; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). 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.
Natera, Inc. RCV000548159 SCV001457969 uncertain significance Glycogen storage disease type III 2019-12-16 no assertion criteria provided clinical testing

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