SMIM10L3

Chr 7

small integral membrane protein 10 like 3

Also known as: C7orf70, SAGSIN1

NCBI Gene: 122526779ENSG00000286075UniProt: A0A0C4DGP1
25
ClinVar variants
13
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— SMIM10L3
📋
ClinVar Variants
13 Pathogenic / Likely Pathogenic· 10 VUS of 25 total submissions
Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

25 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic12
Likely Pathogenic1
VUS10
Likely Benign2
12
Pathogenic
1
Likely Pathogenic
10
VUS
2
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
12
0
12
Likely Pathogenic
0
0
1
0
1
VUS
0
6
4
0
10
Likely Benign
0
2
0
0
2
Benign
0
0
0
0
0
Total0817025

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

View in ClinVar →

Protein Context — Lollipop Plot

SMIM10L3 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence

No publications found for SMIM10L3

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools