Submissions for variant NM_001040142.2(SCN2A):c.1370AAG[2] (p.Glu459del)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002815628	SCV003207814	uncertain significance	Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11	2024-10-13	criteria provided, single submitter	clinical testing	This variant, c.1376_1378del, results in the deletion of 1 amino acid(s) of the SCN2A protein (p.Glu459del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SCN2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 2001676). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
GeneDx	RCV003329449	SCV004036973	uncertain significance	not provided	2023-03-21	criteria provided, single submitter	clinical testing	In-frame deletion of 1 amino acid in a non-repeat region; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Lost residue is predicted to be in the cytoplasmic loop between the first and second homologous domains
CeGaT Center for Human Genetics Tuebingen	RCV003329449	SCV005432756	uncertain significance	not provided	2024-11-01	criteria provided, single submitter	clinical testing	SCN2A: PM2, PM4:Supporting