Submissions for variant NM_001958.5(EEF1A2):c.889G>A (p.Glu297Lys)

dbSNP: rs1395381555

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001960986	SCV002239315	uncertain significance	Developmental and epileptic encephalopathy, 33	2022-03-19	criteria provided, single submitter	clinical testing	This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 297 of the EEF1A2 protein (p.Glu297Lys). This variant has not been reported in the literature in individuals affected with EEF1A2-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt EEF1A2 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Department of Genetics, Robert DEBRE University Hospital	RCV003444969	SCV004171539	likely pathogenic	not provided	2018-07-16	no assertion criteria provided	clinical testing