Submissions for variant NM_001164277.2(SLC37A4):c.1240C>T (p.Leu414=)

gnomAD frequency: 0.00041  dbSNP: rs200703321

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000278035	SCV000342034	uncertain significance	not provided	2016-05-31	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001087385	SCV001118346	likely benign	Glucose-6-phosphate transport defect	2025-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003165758	SCV003913667	likely benign	Inborn genetic diseases	2023-02-02	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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000278035	SCV001932296	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000278035	SCV001967463	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004752830	SCV005344749	likely benign	SLC37A4-related disorder	2024-09-17	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).