RGL1

Chr 1

ral guanine nucleotide dissociation stimulator like 1

Also known as: RGL

NCBI Gene: 23179 ENSG00000143344 UniProt: Q9NZL6 OMIM: 605667

Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in Ras protein signal transduction. Predicted to be located in cytosol. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

OMIM ResearchGenerating clinical summary…

LOEUF 0.32

Clinical Summary— RGL1

⚡

Population Constraint (gnomAD)

Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.96). One damaged copy is likely sufficient to cause disease.

📋

ClinVar Variants

109 VUS of 145 total submissions

Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

LoF intolerant — likely haploinsufficient

LoF Constraint?

0.32LOEUF

pLI 0.956

Z-score 5.12

OE 0.18 (0.10–0.32)

Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?

2.22Z-score

OE missense 0.70 (0.64–0.77)

315 obs / 447.4 exp

Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?

LoF OE?0.18 (0.10–0.32)

0≤0.351.4

Missense OE?0.70 (0.64–0.77)

0≤0.61.4

Synonymous OE?0.98

0≤1.21.6

LoF obs/exp: 8 / 45.1Missense obs/exp: 315 / 447.4Syn Z: 0.25

ClinVar Variant Classifications

145 submitted variants in ClinVar

ClinVar

Classification Summary

VUS109

Likely Benign5

Benign5

109

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	109	0	0	109
Likely Benign	4	0	1	5
Benign	3	1	1	5
Total	116	1	2	119

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

View in ClinVar →

26 pathogenic / likely-pathogenic (of 34) ClinVar copy-number / structural variants overlap RGL1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →