Submissions for variant NM_001040142.2(SCN2A):c.2050C>T (p.Arg684Trp)

gnomAD frequency: 0.00012  dbSNP: rs200783308

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001721219	SCV000242858	likely benign	not provided	2020-11-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314757	SCV000847921	uncertain significance	Inborn genetic diseases	2016-09-30	criteria provided, single submitter	clinical testing	The p.R684W variant (also known as c.2050C>T), located in coding exon 12 of the SCN2A gene, results from a C to T substitution at nucleotide position 2050. The arginine at codon 684 is replaced by tryptophan, an amino acid with dissimilar properties. This variant was previously reported in the SNPDatabase as rs200783308. Based on data from the NHLBI Exome Sequencing Project (ESP), the T allele has an overall frequency of approximately 0.03% (4/13006) total alleles studied, having been observed in 0.02% (1/4406) African American alleles and 0.03% (3/8600) European American alleles. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001408138	SCV001610127	likely benign	Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11	2024-12-02	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001818459	SCV002071707	likely benign	not specified	2018-03-06	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001721219	SCV005434568	likely benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	SCN2A: BS2