Submissions for variant NM_001040142.2(SCN2A):c.4844_4845del (p.Ile1615fs)

dbSNP: rs1574751309

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000805248	SCV000945196	pathogenic	Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11	2019-08-07	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Ala1773Thr amino acid residue in SCN2A. Other variant(s) that disrupt this residue have been determined to be pathogenic (Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has been observed to be de novo in an individual affected with SCN2A-related disease (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the SCN2A gene (p.Ile1615Argfs*47). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last amino 391 acids of the SCN2A protein.
GenomeConnect - Simons Searchlight	RCV001265323	SCV001443440	likely pathogenic	Complex neurodevelopmental disorder	2018-10-29	no assertion criteria provided	provider interpretation	Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-10-29 and interpreted as Likely Pathogenic. Variant was initially reported on 2018-09-20 by GTR ID of laboratory name 500031. The reporting laboratory might also submit to ClinVar.