Submissions for variant NM_015443.4(KANSL1):c.727C>A (p.Gln243Lys)

gnomAD frequency: 0.00174  dbSNP: rs142096969

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000712049	SCV000241361	benign	not provided	2021-05-03	criteria provided, single submitter	clinical testing	Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; In silico analysis supports that this missense variant does not alter protein structure/function; Located in a region that tolerates variation and lacks pathogenic variants
Invitae	RCV001085982	SCV000559738	likely benign	Koolen-de Vries syndrome	2023-12-11	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000712049	SCV000842463	benign	not provided	2018-06-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000712049	SCV002545945	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	KANSL1: BP4, BS1
Ambry Genetics	RCV002514014	SCV003678874	likely benign	Inborn genetic diseases	2022-03-29	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001723759	SCV001956664	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000712049	SCV001966562	likely benign	not provided		no assertion criteria provided	clinical testing