Submissions for variant NM_006517.5(SLC16A2):c.412C>G (p.Gln138Glu)

gnomAD frequency: 0.00032  dbSNP: rs145061343

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000514434	SCV000113375	uncertain significance	not provided	2014-07-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001087210	SCV000252810	benign	Spastic paraplegia	2023-10-03	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514434	SCV000610225	likely benign	not provided	2017-03-07	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847654	SCV002105202	uncertain significance	Hereditary spastic paraplegia	2016-12-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002362728	SCV002657965	benign	Inborn genetic diseases	2017-09-26	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	RCV000514434	SCV004698695	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	SLC16A2: BP4, BS2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	RCV001251643	SCV001427383	benign	Intellectual disability	2019-01-01	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003905062	SCV004718409	likely benign	SLC16A2-related disorder	2023-06-26	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).