Submissions for variant NM_006766.5(KAT6A):c.4108G>T (p.Glu1370Ter)

Minimum review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total submissions: 2

Download table as spreadsheet

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000169643	SCV000196511	uncertain significance	not provided	2013-04-08	criteria provided, single submitter	clinical testing	The KAT6A gene is a candidate gene. This variant requires further evaluation in a research setting. To date, no mutations in the KAT6A gene have been reported in association with a specific human disease to our knowledge. However, multiple patients presenting with global developmental delay, dysmorphic facial features, hypotonia, and cardiac anomalies were found to carry a de novo variant in the KAT6A gene at GeneDx. While the function of KAT6A has not been completely defined, studies in mice suggest that KAT6A may act as a chromatin modifier by interacting with the TBX1 gene. Mutations in the TBX1 gene as well as contiguous gene deletions including the TBX1 gene within cytogenetic band 22q11 cause Velocardiofacial/DiGeorge syndrome. KAT6A-null mice have features that mirror the 22q11 deletion syndrome, suggesting KAT6A is involved in cardiac, pharyngeal and facial development (Voss et al., 2012).;p.Glu1370Stop (GAG>TAG): c.4108 G>T in exon 18 in the KAT6A gene (NM_001099412.1). The E1370X nonsense variant in the KAT6A gene has not been reported previously as a disease-causing mutation nor as a benign polymorphism, to our knowledge. E1370X is predicted to cause loss of normal protein function through protein truncation. E1370X creates a new stop codon on the last exon of the KAT6A gene, resulting in loss of the last 635 amnio acids in the resulting protein. This finding requires further evaluation in a research setting. This variant has been seen de novo. The variant is found in KAT6A panel(s).
OMIM	RCV000167550	SCV000218425	pathogenic	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	2015-03-05	no assertion criteria provided	literature only

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.