ClinVar Miner

Submissions for variant NM_000116.5(TAZ):c.646G>A (p.Gly216Arg) (rs1085307797)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489828 SCV000577316 likely pathogenic not provided 2017-04-04 criteria provided, single submitter clinical testing The Gly216Arg variant in the TAZ gene has been been reported in association with Barth syndrome (D'Adamo P et al., 1997; Kuijpers T et al., 2004). D'Adamo et al. reported Gly216Arg in two unrelated patients with Barth syndrome who presented with DCM, neutropenia, 3-methylglutaconic aciduria, and growth retardation. This study also did not observed this variant in 100 control chromosomes. Kuijpers et al. also identified Gly216Arg in an adult patient with Barth syndrome. A different nucleotide substitution leading to the same amino acid change (c.646 G>C, Gly216Arg) also has been reported in HGMD in association with Barth syndrome. Also, variant in nearby residues (Leu210Arg, Leu212Pro, His214Arg) have been reported in HGMD in association with Barth syndrome (Stenson P et al., 2009), further supporting the functional importance of this region of the protein. In summary, Gly216Arg in the TAZ gene is interpreted as a likely pathogenic variant.
Invitae RCV000816124 SCV000956616 pathogenic 3-Methylglutaconic aciduria type 2 2018-11-14 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 216 of the TAZ protein (p.Gly216Arg). The glycine residue is modrately conserved and there is a moderate physicochemical difference between glycine and arginine. This variant also falls at the last nucleotide of exon 8 of the TAZ coding sequence, which is part of the consensus splice site for this exon. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with Barth syndrome (PMID: 9382096, 24887148, 23656970, 23361305, 21932011). ClinVar contains an entry for this variant (Variation ID: 426783). Experimental studies have shown that this missense change disrupts normal TAZ protein function (PMID: 16880272). For these reasons, this variant has been classified as Pathogenic.

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