C1ORF122

Chr 1

chromosome 1 open reading frame 122

Also known as: ALAESM

NCBI Gene: 127687 ENSG00000197982 UniProt: Q6ZSJ8

The protein encoded by this gene has unknown function but is thought to be involved in cellular processes. Mutations cause autosomal recessive spastic paraplegia, characterized by progressive lower limb spasticity and weakness typically beginning in childhood or adolescence. This gene shows relatively low constraint against loss-of-function variants, which is consistent with its recessive inheritance pattern.

Research

ResearchGenerating clinical summary…

LOEUF 1.76

Clinical Summary— C1ORF122

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Population Constraint (gnomAD)

Low constraint (pLI 0.14) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

2 unique Pathogenic / Likely Pathogenic· 40 VUS of 68 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.76LOEUF

pLI 0.143

Z-score 0.63

OE 0.51 (0.17–1.76)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.43Z-score

OE missense 0.79 (0.58–1.09)

27 obs / 34.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.51 (0.17–1.76)

0≤0.351.4

Missense OE?0.79 (0.58–1.09)

0≤0.61.4

Synonymous OE?0.54

0≤1.21.6

LoF obs/exp: 1 / 1.9Missense obs/exp: 27 / 34.0Syn Z: 1.46

ClinVar Variant Classifications

68 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic1

Likely Pathogenic1

VUS40

Likely Benign21

Benign1

Pathogenic

Likely Pathogenic

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	1	0	0	1
Likely Pathogenic	1	0	0	1
VUS	40	0	0	40
Likely Benign	3	1	17	21
Benign	0	0	1	1
Total	45	1	18	64

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

View in ClinVar →

5 pathogenic / likely-pathogenic (of 11) ClinVar copy-number / structural variants overlap C1ORF122 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →