Submissions for variant NM_001130438.3(SPTAN1):c.6763C>T (p.Arg2255Cys)

gnomAD frequency: 0.00008  dbSNP: rs372779649

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000227802	SCV000286172	likely benign	Early infantile epileptic encephalopathy with suppression bursts	2024-11-15	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000361515	SCV000341503	likely benign	not specified	2017-06-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001726063	SCV001962576	benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	SPTAN1: PP2, BS1, BS2
Genome-Nilou Lab	RCV001808663	SCV002056607	likely benign	Developmental and epileptic encephalopathy, 5	2021-07-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002365183	SCV002661622	benign	Inborn genetic diseases	2019-12-03	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
PreventionGenetics, part of Exact Sciences	RCV004547601	SCV004730481	likely benign	SPTAN1-related disorder	2021-08-10	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).