ClinVar Miner

Submissions for variant NM_000116.5(TAZ):c.763G>A (p.Glu255Lys) (rs782498694)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183911 SCV000236397 uncertain significance not provided 2014-02-24 criteria provided, single submitter clinical testing p.Glu255Lys (GAG>AAG): c.763 G>A in exon 10 of the TAZ gene (NM_000116.3). The E255K variant in the TAZ gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. The E255K variant is a non-conservative amino acid substitution as these residues differ in polarity, charge, size and/or other properties and is more likely to impact secondary structure. The E255 residue is class conserved across species. However, in silico analysis was inconsistent with regard to the effect this variant may have on the protein structure/function. Nevertheless, the E255K variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. With the clinical and molecular information available at this time, we cannot definitively determine if E255K is a disease-causing mutation or a rare benign variant. The variant is found in DCM-CRDM panel(s).
Invitae RCV000817139 SCV000957684 uncertain significance 3-Methylglutaconic aciduria type 2 2018-12-20 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 255 of the TAZ protein (p.Glu255Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs782498694, ExAC 0.01%). This variant has been observed in an individual with a cardiovascular malformation (PMID: 29089047). ClinVar contains an entry for this variant (Variation ID: 202096). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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