Submissions for variant NM_024757.5(EHMT1):c.1140G>C (p.Glu380Asp)

gnomAD frequency: 0.00013  dbSNP: rs368995503

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000638391	SCV000759899	benign	Kleefstra syndrome 1	2024-01-26	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000638391	SCV000895979	uncertain significance	Kleefstra syndrome 1	2018-10-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001591423	SCV001826203	likely benign	not provided	2020-11-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002458028	SCV002617898	likely benign	Inborn genetic diseases	2022-11-08	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.
Revvity Omics, Revvity	RCV000638391	SCV003831862	uncertain significance	Kleefstra syndrome 1	2019-09-14	criteria provided, single submitter	clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	RCV001252232	SCV001427983	likely benign	Intellectual disability	2019-01-01	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003937922	SCV004752295	likely benign	EHMT1-related disorder	2024-02-06	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).