ClinVar Miner

Submissions for variant NM_001698.2(AUH):c.791G>A (p.Gly264Glu) (rs376821113)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000703446 SCV000897531 uncertain significance 3-Methylglutaconic aciduria type 1 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000200070 SCV000251180 uncertain significance not provided 2016-12-15 criteria provided, single submitter clinical testing p.Gly264Glu (GGA>GAA): c.791 G>A in exon 7 of the AUH gene (NM_001698.2). The G264E variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The G264E variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals and in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant.
Invitae RCV000703446 SCV000832345 uncertain significance 3-Methylglutaconic aciduria type 1 2018-05-15 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 264 of the AUH protein (p.Gly264Glu). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is present in population databases (rs376821113, ExAC 0.02%). This variant has not been reported in the literature in individuals with AUH-related disease. ClinVar contains an entry for this variant (Variation ID: 214148). 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.

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