ClinVar Miner

Submissions for variant NM_000116.5(TAZ):c.790A>G (p.Lys264Glu) (rs1557194488)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Immunology,University Hospital Southampton NHSFT RCV000611350 SCV000583985 likely pathogenic 3-Methylglutaconic aciduria type 2 criteria provided, single submitter clinical testing
GeneDx RCV000523344 SCV000620386 uncertain significance not provided 2017-09-13 criteria provided, single submitter clinical testing The K264E variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The K264E variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The K264E 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 across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000611350 SCV000758745 uncertain significance 3-Methylglutaconic aciduria type 2 2017-11-17 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 264 of the TAZ protein (p.Lys264Glu). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TAZ-related disease. 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: "Deleterious"; PolyPhen-2: "Possibly 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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