Submissions for variant NM_012330.4(KAT6B):c.3341C>T (p.Thr1114Met)

dbSNP: rs755451488

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000413450	SCV000490968	uncertain significance	not specified	2016-12-06	criteria provided, single submitter	clinical testing	The T1114M variant in the KAT6B gene has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The T1114M variant was not observed in approximately 6400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The T1114M variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret T1114M as a variant of unknown significance
New York Genome Center	RCV002506001	SCV001431172	uncertain significance	Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type	2019-12-20	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002506001	SCV002812881	uncertain significance	Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type	2021-09-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002524637	SCV002969368	likely benign	Genitopatellar syndrome	2025-01-08	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003418093	SCV004126817	likely benign	not provided	2022-09-01	criteria provided, single submitter	clinical testing	KAT6B: BS2
PreventionGenetics, part of Exact Sciences	RCV004530510	SCV004751770	likely benign	KAT6B-related disorder	2023-02-01	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).