ClinVar Miner

Submissions for variant NM_000116.5(TAZ):c.331C>T (p.His111Tyr) (rs200405157)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000151966 SCV000200501 uncertain significance not specified 2013-09-04 criteria provided, single submitter clinical testing The His111Tyr variant in TAZ has not been reported in any other families with ca rdiomyopathy, but has been identified in 1/6728 European American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs 200405157). Computational analyses (biochemical amino acid properties, conservat ion, AlignGVGD, PolyPhen2, and SIFT) suggest that the His111Tyr variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. Additional studies are needed to fully assess the clinical sign ificance of the His111Tyr variant.
GeneDx RCV000151966 SCV000236391 likely benign not specified 2012-09-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000705533 SCV000834534 uncertain significance 3-Methylglutaconic aciduria type 2 2018-12-27 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 111 of the TAZ protein (p.His111Tyr). The histidine residue is weakly conserved and there is a moderate physicochemical difference between histidine and tyrosine. This variant is present in population databases (rs200405157, ExAC 0.008%). This variant has not been reported in the literature in individuals with TAZ-related disease. ClinVar contains an entry for this variant (Variation ID: 165328). 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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