Submissions for variant NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr)

gnomAD frequency: 0.00006  dbSNP: rs141619735

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724044	SCV000232709	uncertain significance	not provided	2014-07-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000724044	SCV000243008	benign	not provided	2020-01-24	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 21135204)
Genetic Services Laboratory, University of Chicago	RCV000189370	SCV000248909	uncertain significance	not specified	2014-12-12	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001079673	SCV000557624	likely benign	GLUT1 deficiency syndrome 1, autosomal recessive	2024-02-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000515255	SCV000611522	uncertain significance	Hereditary cryohydrocytosis with reduced stomatin	2017-05-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317061	SCV000851067	uncertain significance	Inborn genetic diseases	2016-07-07	criteria provided, single submitter	clinical testing	The p.I339T variant (also known as c.1016T>C), located in coding exon 8 of the SLC2A1 gene, results from a T to C substitution at nucleotide position 1016. The isoleucine at codon 339 is replaced by threonine, an amino acid with similar properties. This variant was previously reported in the SNPDatabase as rs141619735. Based on data from the NHLBI Exome Sequencing Project (ESP), the C allele has an overall frequency of approximately 0.01% (1/13006) total alleles studied, having been observed in 0.02% (1/4406) African American alleles. This amino acid position is highly conserved through mammals but not in all available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV000768319	SCV000898979	uncertain significance	Hereditary cryohydrocytosis with reduced stomatin; Dystonia 9; Encephalopathy due to GLUT1 deficiency; Childhood onset GLUT1 deficiency syndrome 2; Epilepsy, idiopathic generalized, susceptibility to, 12	2021-03-30	criteria provided, single submitter	clinical testing	SLC2A1 NM_006516.2 exon 8 p.Ile339Thr (c.1016T>C): This variant has been reported in the literature in 1 individual with meningomyocele (Cormier 2011 PMID:21135204). However, this variant is present in 0.3% (127/34406) of Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs141619735). This variant is present in ClinVar (Variation ID:198843). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
New York Genome Center	RCV001781538	SCV002025671	uncertain significance	Epilepsy, idiopathic generalized, susceptibility to, 12	2020-04-14	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000724044	SCV003825650	uncertain significance	not provided	2022-01-18	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000724044	SCV004227812	uncertain significance	not provided	2021-11-23	criteria provided, single submitter	clinical testing	BS1