Submissions for variant NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala)

gnomAD frequency: 0.00016  dbSNP: rs147522594

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000189158	SCV000152616	likely benign	not specified	2016-05-26	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000724214	SCV000228378	uncertain significance	not provided	2014-10-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000724214	SCV000242790	benign	not provided	2018-11-21	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26645390, 25818041, 9154907)
Illumina Laboratory Services, Illumina	RCV000340147	SCV000417451	likely benign	Seizures, benign familial infantile, 3	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae	RCV001085807	SCV000562135	likely benign	Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11	2024-01-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313918	SCV000848298	likely benign	Inborn genetic diseases	2016-11-18	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.
Mendelics	RCV000340147	SCV001136003	benign	Seizures, benign familial infantile, 3	2023-08-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000724214	SCV004011225	benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	SCN2A: PP3, BS1, BS2
GenomeConnect, ClinGen	RCV001085807	SCV001423343	not provided	Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11		no assertion provided	phenotyping only	Variant interpretted as Uncertain significance and reported on 05-24-2016 by Lab or GTR ID 506900. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.