Submissions for variant NM_001164277.2(SLC37A4):c.593A>T (p.Asn198Ile)

gnomAD frequency: 0.00280  dbSNP: rs34203644

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000128138	SCV000171730	benign	not specified	2013-10-29	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001083465	SCV000631383	benign	Glucose-6-phosphate transport defect	2025-02-02	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000586546	SCV000697756	benign	not provided	2016-04-19	criteria provided, single submitter	clinical testing	Variant summary:The c.593A>T in SLC37A4 gene is a missense change that alters a conserved nucleotide and 2/4 in silico tools predict benign outcome. The variant was observed in the large and broad cohorts of the ExAC project at an allele frequency of 0.36% exclusively in individuals of European descent (0.53%), including 2 homozygous occurrences. This frequency exceeds the maximal expected allele frequency for a pathogenic variant in SLC37A4 gene (0.12%). The variant of interest has been reported in three GSD1b patients (Zappu_2010) who also carried a splice-site mutation in homozygous state, strongly suggesting for benign outcome. In functional studies the variant had normal G6P transport activity (Chen, 2010). In addition, the variant has been reported as Benign/Polymorphism by a clinical laboratory and published reports (Zappu, 2010) Taking together, the variant has been classified as Benign.
Eurofins Ntd Llc (ga)	RCV000128138	SCV000705610	likely benign	not specified	2017-02-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000586546	SCV004033170	likely benign	not provided	2024-12-01	criteria provided, single submitter	clinical testing	SLC37A4: BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000586546	SCV004563895	benign	not provided	2023-10-09	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000586546	SCV005212972	likely benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001083465	SCV001457218	benign	Glucose-6-phosphate transport defect	2020-04-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000586546	SCV001742396	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000586546	SCV001797627	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000586546	SCV001931560	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000586546	SCV001964217	likely benign	not provided		no assertion criteria provided	clinical testing