Submissions for variant NM_014795.4(ZEB2):c.385G>A (p.Ala129Thr)

gnomAD frequency: 0.00001  dbSNP: rs730881187

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000159465	SCV000209414	likely benign	not specified	2014-04-22	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000684966	SCV000812431	benign	Mowat-Wilson syndrome	2023-10-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000684966	SCV002045606	uncertain significance	Mowat-Wilson syndrome	2021-11-07	criteria provided, single submitter	clinical testing
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	RCV000684966	SCV002574789	uncertain significance	Mowat-Wilson syndrome	2022-05-20	criteria provided, single submitter	clinical testing	A heterozygous missense variation in exon 4 of the ZEB2 gene that results in the amino acid substitution of threonine for alanine at codon 129 was detected. The observed variant c.385G>A (p.Ala129Thr) has not been reported in the 1000 genomes and gnomAD databases. The in silico prediction of the variant are possibly damaging by PolyPhen-2 (HumDiv) and damaging by LRT and MutationTaster2. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as uncertain significance.
Ambry Genetics	RCV002354401	SCV002622845	likely benign	Inborn genetic diseases	2017-11-15	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences	RCV004752766	SCV005342474	uncertain significance	ZEB2-related disorder	2024-06-21	no assertion criteria provided	clinical testing	The ZEB2 c.385G>A variant is predicted to result in the amino acid substitution p.Ala129Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0098% of alleles in individuals of South Asian descent in gnomAD. This variant could be benign. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.