Submissions for variant NM_001958.5(EEF1A2):c.1266C>A (p.Gly422=)

gnomAD frequency: 0.00277  dbSNP: rs202102758

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000421428	SCV000522864	benign	not specified	2016-10-05	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001083677	SCV000656422	benign	Developmental and epileptic encephalopathy, 33	2025-02-03	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000711594	SCV000841974	benign	not provided	2018-05-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311479	SCV000846540	likely benign	Inborn genetic diseases	2016-03-21	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	RCV000711594	SCV002585894	benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	EEF1A2: BP4, BP7, BS1, BS2
Fulgent Genetics, Fulgent Genetics	RCV002502525	SCV002804920	likely benign	Intellectual disability, autosomal dominant 38; Developmental and epileptic encephalopathy, 33	2022-05-17	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000711594	SCV005210157	likely benign	not provided		criteria provided, single submitter	not provided
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000711594	SCV005877281	benign	not provided	2024-10-11	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000711594	SCV001743200	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000421428	SCV001968342	benign	not specified		no assertion criteria provided	clinical testing