Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000811455 | SCV000951722 | uncertain significance | 3-Methylglutaconic aciduria type 2 | 2020-12-29 | criteria provided, single submitter | clinical testing | 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. This variant disrupts the p.Gly216 amino acid residue in TAZ. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 9382096, 24887148, 23656970, 23361305, 21932011). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals with TAZ-related conditions. ClinVar contains an entry for this variant (Variation ID: 655314). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with glutamic acid at codon 216 of the TAZ protein (p.Gly216Glu). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and glutamic acid. |