C1ORF94

Chr 1

chromosome 1 open reading frame 94

NCBI Gene: 84970 ENSG00000142698 UniProt: Q6P1W5 OMIM: 618682

This gene encodes a protein of unknown function. Biallelic mutations cause autosomal recessive severe early-onset epileptic encephalopathy with developmental delay and intellectual disability. The gene shows relatively low constraint against loss-of-function variants.

OMIM Research

OMIM ResearchGenerating clinical summary…

LOEUF 0.59

Clinical Summary— C1ORF94

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.33) despite low pLI — interpret in context.

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ClinVar Variants

6 VUS of 11 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.59LOEUF

pLI 0.009

Z-score 3.07

OE 0.33 (0.19–0.59)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

0.25Z-score

OE missense 0.96 (0.88–1.05)

319 obs / 331.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.33 (0.19–0.59)

0≤0.351.4

Missense OE?0.96 (0.88–1.05)

0≤0.61.4

Synonymous OE?0.93

0≤1.21.6

LoF obs/exp: 8 / 24.4Missense obs/exp: 319 / 331.9Syn Z: 0.69

ClinVar Variant Classifications

11 submitted variants in ClinVar

ClinVar

Classification Summary

VUS6

Likely Benign2

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	6	0	6
Likely Benign	1	1	2
Benign	0	0	0
Total	7	1	8

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

View in ClinVar →

6 pathogenic / likely-pathogenic (of 10) ClinVar copy-number / structural variants overlap C1ORF94 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →