Submissions for variant NM_001032221.6(STXBP1):c.1351G>A (p.Val451Ile)

gnomAD frequency: 0.00021  dbSNP: rs150259704

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000422875	SCV000511036	likely benign	not provided	2017-01-09	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
GeneDx	RCV000422875	SCV000565605	benign	not provided	2019-07-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001089280	SCV000633889	benign	Early infantile epileptic encephalopathy with suppression bursts	2025-02-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311442	SCV000847269	benign	Inborn genetic diseases	2018-12-01	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.
CeGaT Center for Human Genetics Tuebingen	RCV000422875	SCV003917700	benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	STXBP1: PP2, BS1, BS4
PreventionGenetics, part of Exact Sciences	RCV004551418	SCV004758024	likely benign	STXBP1-related disorder	2024-05-22	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).