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

dbSNP: rs1060500044

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000809073	SCV000949212	pathogenic	3-Methylglutaconic aciduria type 2	2023-11-08	criteria provided, single submitter	clinical testing	This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 94 of the TAZ protein (p.Arg94His). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of TAZ-related conditions (PMID: 16548007, 23656970, 26724946). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 653322). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This variant disrupts the p.Arg94 amino acid residue in TAZ. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 9345098, 12032589, 20812380, 26845103, 28123175). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen	RCV001091835	SCV001248068	pathogenic	not provided	2019-04-01	criteria provided, single submitter	clinical testing
Molecular Diagnostics Lab, Nemours Children's Health, Delaware	RCV000809073	SCV003935917	likely pathogenic	3-Methylglutaconic aciduria type 2	2020-08-18	criteria provided, single submitter	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001091835	SCV001952052	pathogenic	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001091835	SCV001969555	pathogenic	not provided		no assertion criteria provided	clinical testing