Submissions for variant NM_006766.5(KAT6A):c.4968_4982dup (p.Gln1657_Pro1661dup)

dbSNP: rs750049486

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002534532	SCV000846648	uncertain significance	Inborn genetic diseases	2016-05-24	criteria provided, single submitter	clinical testing	The c.4968_4982dup15 variant (also known as p.Q1657_p1661dup), located in coding exon 16 of the KAT6A gene, results from an in-frame duplication of 15 nucleotides between nucleotide positions 4968 and 4982. This results in the duplication of 5 extra residues (QQPQP) between codons 1657 and 1661. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6302 samples (12604 alleles) with coverage at this position. These amino acid positions are not well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx	RCV001683636	SCV001900152	benign	not provided	2020-10-01	criteria provided, single submitter	clinical testing
Invitae	RCV001683636	SCV002454221	likely benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002534532	SCV003715090	likely benign	Inborn genetic diseases	2021-09-02	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.
CeGaT Center for Human Genetics Tuebingen	RCV001683636	SCV004157538	benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	KAT6A: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003928189	SCV004741378	likely benign	KAT6A-related disorder	2021-05-11	criteria provided, single submitter	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).