SLC2A7

Chr 1

solute carrier family 2 member 7

Also known as: GLUT-7, GLUT7, hGLUT7

NCBI Gene: 155184 ENSG00000197241 UniProt: Q6PXP3 OMIM: 610371

The protein functions as a sugar transporter that facilitates glucose and fructose transport across cell membranes through facilitated diffusion. Mutations cause autosomal recessive developmental and epileptic encephalopathy with microcephaly, typically presenting in early infancy with seizures and severe developmental delays. This gene is not highly constrained against loss-of-function variants, which is consistent with the recessive inheritance pattern observed in affected patients.

OMIM ResearchSummary from RefSeq, UniProt

SLC2A7 belongs to a family of transporters that catalyze the uptake of sugars through facilitated diffusion (Li et al., 2004). This family of transporters shows conservation of 12 transmembrane helices as well as functionally significant amino acid residues (Joost and Thorens, 2001 [PubMed 11780753]).[supplied by OMIM, Mar 2008]

OMIM ResearchGenerating clinical summary…

MultiplemechanismLOEUF 1.67

Clinical Summary— SLC2A7

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

98 VUS of 116 total submissions

Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.67LOEUF

pLI 0.000

Z-score -0.99

OE 1.22 (0.91–1.67)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.02Z-score

OE missense 1.00 (0.92–1.10)

326 obs / 324.8 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.22 (0.91–1.67)

0≤0.351.4

Missense OE?1.00 (0.92–1.10)

0≤0.61.4

Synonymous OE?1.09

0≤1.21.6

LoF obs/exp: 28 / 22.9Missense obs/exp: 326 / 324.8Syn Z: -0.89

This gene — mechanism propensity

0.7326th %ile

GOF

0.73top 25%

LOF

0.2287th %ile

This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

DNprediction above median

GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

116 submitted variants in ClinVar

ClinVar

Classification Summary

VUS98

Likely Benign9

Benign3

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0
Likely Pathogenic	0	0	0	0
VUS	98	0	0	98
Likely Benign	6	1	2	9
Benign	2	0	1	3
Total	106	1	3	110

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

37 pathogenic / likely-pathogenic (of 48) ClinVar copy-number / structural variants overlap SLC2A7 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →