Submissions for variant NM_001130438.3(SPTAN1):c.7319G>A (p.Arg2440Gln)

gnomAD frequency: 0.00029  dbSNP: rs141980692

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001711487	SCV000243125	benign	not provided	2019-05-30	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000467036	SCV000553146	benign	Early infantile epileptic encephalopathy with suppression bursts	2024-01-27	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000755655	SCV000883055	likely benign	Developmental and epileptic encephalopathy, 5	2018-10-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000755655	SCV002056723	benign	Developmental and epileptic encephalopathy, 5	2021-07-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002381639	SCV002669744	uncertain significance	Inborn genetic diseases	2017-12-14	criteria provided, single submitter	clinical testing	The p.R2440Q variant (also known as c.7319G>A), located in coding exon 56 of the SPTAN1 gene, results from a G to A substitution at nucleotide position 7319. The arginine at codon 2440 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen	RCV001711487	SCV004010871	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	SPTAN1: PP2, BS1
Revvity Omics, Revvity	RCV001711487	SCV004237878	likely benign	not provided	2023-10-30	criteria provided, single submitter	clinical testing