Submissions for variant NM_006766.5(KAT6A):c.2226C>T (p.Asp742=)

gnomAD frequency: 0.00038  dbSNP: rs143212958

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001670949	SCV001884048	benign	not provided	2020-03-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001670949	SCV002434472	benign	not provided	2024-12-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002425022	SCV002730225	uncertain significance	Inborn genetic diseases	2018-01-18	criteria provided, single submitter	clinical testing	The c.2226C>T variant (also known as p.D742D), located in coding exon 12, results from a C to T substitution at nucleotide position 2226 of the KAT6A gene. This nucleotide substitution does not change the amino acid at codon 742. This nucleotide position is well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to weaken the efficiency of the native splice donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences	RCV003910950	SCV004723659	likely benign	KAT6A-related disorder	2022-06-30	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).