ClinVar Miner

Submissions for variant NM_000116.5(TAZ):c.281G>A (p.Arg94His) (rs1060500044)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000809073 SCV000949212 pathogenic 3-Methylglutaconic aciduria type 2 2019-10-28 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 94 of the TAZ protein (p.Arg94His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual affected with Barth syndrome (PMID: 23656970). This variant has also been observed in a family with a strong history of male infant death (PMID: 16548007) and in an individual with growth retardation (PMID: 26724946). 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. Variants that disrupt the p.Arg94 amino acid residue in TAZ have been observed in affected individuals (PMID: 26845103, 28123175, 9345098, 20812380, 12032589). This suggests that it is a clinically significant residue, and that other variants that disrupt this residue are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091835 SCV001248068 pathogenic not provided 2019-04-01 criteria provided, single submitter clinical testing

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