Submissions for variant NM_001164277.2(SLC37A4):c.1004G>A (p.Gly335Glu)

dbSNP: rs1326123837

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000821250	SCV000962003	uncertain significance	Glucose-6-phosphate transport defect	2023-11-29	criteria provided, single submitter	clinical testing	This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 335 of the SLC37A4 protein (p.Gly335Glu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with glycogen storage disease (PMID: 32374048). ClinVar contains an entry for this variant (Variation ID: 663384). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SLC37A4 protein function with a positive predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genome-Nilou Lab	RCV000821250	SCV001806731	uncertain significance	Glucose-6-phosphate transport defect	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001579263	SCV001806732	uncertain significance	Phosphate transport defect	2021-07-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002275158	SCV002563087	uncertain significance	not provided	2022-07-01	criteria provided, single submitter	clinical testing	SLC37A4: PM2, PP3
Natera, Inc.	RCV000821250	SCV002078674	uncertain significance	Glucose-6-phosphate transport defect	2020-07-23	no assertion criteria provided	clinical testing