CLASP1

Chr 2

cytoplasmic linker associated protein 1

Also known as: MAST1

NCBI Gene: 23332ENSG00000074054UniProt: Q7Z460

CLASPs, such as CLASP1, are nonmotor microtubule-associated proteins that interact with CLIPs (e.g., CLIP170; MIM 179838). CLASP1 is involved in the regulation of microtubule dynamics at the kinetochore and throughout the spindle (Maiato et al., 2003 [PubMed 12837247]).[supplied by OMIM, Mar 2008]

0
Active trials
54
Pathogenic / LP
430
ClinVar variants
8
Pubs (1 yr)
3.6
Missense Z· constrained
0.18
LOEUF· LoF intolerant
Clinical Summary— CLASP1
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
54 Pathogenic / Likely Pathogenic· 318 VUS of 430 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint
0.18LOEUF
pLI 1.000
Z-score 7.86
OE 0.10 (0.06–0.18)
Highly constrained

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

Missense Constraint
3.61Z-score
OE missense 0.65 (0.61–0.70)
560 obs / 857.8 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios
LoF OE0.10 (0.06–0.18)
0≤0.351.4
Missense OE0.65 (0.61–0.70)
0≤0.61.4
Synonymous OE0.98
0≤1.21.6
LoF obs/exp: 9 / 89.0Missense obs/exp: 560 / 857.8Syn Z: 0.30
LOF
DN
0.4587th %ile
GOF
0.4184th %ile
LOF
0.75top 10%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.18

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

430 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic30
Likely Pathogenic24
VUS318
Likely Benign28
Benign13
Conflicting17
30
Pathogenic
24
Likely Pathogenic
318
VUS
28
Likely Benign
13
Benign
17
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
30
0
30
Likely Pathogenic
0
0
24
0
24
VUS
1
131
186
0
318
Likely Benign
0
2
21
5
28
Benign
0
2
8
3
13
Conflicting
—17
Total11352698430

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

View in ClinVar →

CLASP1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 3 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients