SMIM10L3

Chr 7

small integral membrane protein 10 like 3

Also known as: C7orf70, SAGSIN1

NCBI Gene: 122526779 ENSG00000286075 UniProt: A0A0C4DGP1

I don't see any information provided about the SMIM10L3 gene's protein function, associated diseases, or inheritance pattern. Without this supporting data, I cannot write a clinical gene summary following the strict requirement to use only the information provided.

Research

ResearchGenerating clinical summary…

Clinical Summary— SMIM10L3

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ClinVar Variants

6 VUS of 10 total submissions

Explore recent and relevant literature in Research Assistant →

Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

10 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	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	6	6
Likely Benign	2	2
Benign	0	0
Total	8	8

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

View in ClinVar →

14 pathogenic / likely-pathogenic (of 18) ClinVar copy-number / structural variants overlap SMIM10L3 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →