Submissions for variant NM_001145661.2(GATA2):c.371C>A (p.Thr124Lys) (rs569301892)

Minimum review status:		Collection method:
Minimum conflict level:
		ClinVar version:

Total submissions: 2

Download table as spreadsheet

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000459028	SCV000541501	uncertain significance	Lymphedema, primary, with myelodysplasia; Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency	2019-08-28	criteria provided, single submitter	clinical testing	This sequence change replaces threonine with lysine at codon 124 of the GATA2 protein (p.Thr124Lys). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and lysine. While this variant is present in population databases (rs569301892), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in an individual with a GATA2-related disease, but has been reported in a healthy individual undergoing genome sequencing (PMID: 24728327). ClinVar contains an entry for this variant (Variation ID: 134464). 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 tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
ITMI	RCV000121146	SCV000085314	not provided	not specified	2013-09-19	no assertion provided	reference population

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.