SAMTOR

Chr 7AD

S-adenosylmethionine sensor upstream of mTORC1

Also known as: BMT2, C7orf60

Enables S-adenosyl-L-methionine binding activity. Involved in cellular response to amino acid starvation; cellular response to methionine; and positive regulation of TORC1 signaling. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]

Primary Disease Associations & Inheritance

Epilepsy, familial focal, with variable foci 2MIM #617116
AD
Epilepsy, familial focal, with variable foci 3MIM #617118
AD
21
ClinVar variants
16
Pathogenic / LP
pLI score
0
Active trials
Clinical SummarySAMTOR
📋
ClinVar Variants
16 Pathogenic / Likely Pathogenic· 5 VUS of 21 total submissions
Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

21 submitted variants in ClinVar

Classification Summary

Pathogenic16
VUS5
16
Pathogenic
5
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
16
Likely Pathogenic
0
VUS
5
Likely Benign
0
Benign
0
Total21

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

SAMTOR · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

3 OMIM entries

Epilepsy, familial focal, with variable foci 2

MIM #617116

Molecular basis of disorder known

Autosomal dominant

Epilepsy, familial focal, with variable foci 3

MIM #617118

Molecular basis of disorder known

Autosomal dominant
Clinical Literature
Landmark / reviewRecent case evidence

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →