Submissions for variant NM_001318510.2(ACSL4):c.1325A>G (p.Tyr442Cys)

gnomAD frequency: 0.00046  dbSNP: rs200451158

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174334	SCV000225616	likely benign	not specified	2015-04-28	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000419683	SCV000510575	likely benign	not provided	2016-11-07	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
CeGaT Center for Human Genetics Tuebingen	RCV000419683	SCV000693358	uncertain significance	not provided	2017-09-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317002	SCV000849477	likely benign	Inborn genetic diseases	2017-05-03	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000419683	SCV001014018	benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000419683	SCV001798787	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000174334	SCV001971089	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003947471	SCV004758519	likely benign	ACSL4-related disorder	2021-06-10	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).