Submissions for variant NM_001134407.3(GRIN2A):c.3120G>C (p.Glu1040Asp)

gnomAD frequency: 0.00004  dbSNP: rs756663920

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000585166	SCV000577128	uncertain significance	not provided	2017-04-10	criteria provided, single submitter	clinical testing	A variant of uncertain significance has been identified in the GRIN2A gene. The E1040D variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The E1040D variant is observed in 6/16512 (0.04%) alleles from individuals of South Asian background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position that is conserved in mammals. However, the E1040D variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
CeGaT Center for Human Genetics Tuebingen	RCV000585166	SCV000692835	uncertain significance	not provided	2017-10-01	criteria provided, single submitter	clinical testing
Invitae	RCV002063834	SCV002393825	likely benign	Landau-Kleffner syndrome	2023-11-13	criteria provided, single submitter	clinical testing