Submissions for variant NM_001040142.2(SCN2A):c.24G>A (p.Pro8=)

gnomAD frequency: 0.00010  dbSNP: rs149534277

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000127935	SCV000171521	benign	not specified	2013-02-27	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.
Genetic Services Laboratory, University of Chicago	RCV000127935	SCV000248807	uncertain significance	not specified	2015-06-24	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000322868	SCV000417385	benign	Seizures, benign familial infantile, 3	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV000538821	SCV000639616	likely benign	Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11	2023-12-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316407	SCV000850991	likely benign	Inborn genetic diseases	2016-04-26	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Eurofins Ntd Llc (ga)	RCV000127935	SCV000858360	benign	not specified	2017-12-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003430698	SCV004147119	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	SCN2A: BP4, BP7