MTOR E1799K

CI-VAR-00000676Explore in graph →NP_004949.1:p.Glu1799LysNM_004958.3:c.5395G>AClinVar 217823 CIViC 544 rs863225264

Curated evidence

Evidence by cancer (3 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

civicCuratedShowing 1–3 of 3 evidence items across 3 cancer contexts on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Malignant Neoplasm1
MTOR E1799K	Sirolimus	Predictive	D	Supports Sensitivity Response	2	accepted	EID1321 Cell lines with various putative activating mutations were tested for sensitivity to rapamycin. The cell line SNU349, with MTOR mutation E1799K was hypersensitive to rapamycin treatment (IC50 of 0.19 … (full text at CIViC) PMID 24631838 · Grabiner et al., 2014 · Open in CIViC	civic
Focal Cortical Dysplasia1unmapped disease
MTOR E1799K	Everolimus	Predictive	D	Supports Sensitivity Response	4	submitted	EID9489 The L2427P (c.7280T>C) variant of mTOR was found in brain tissue samples from 2 focal cortical dysplasia type II (FCDII) patients at allelic frequencies of 9.6–12.6% and 6.9–7.3% in biological replica… (full text at CIViC)

ClinVar

Clinical significance (0)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

Data not yet available

No ClinVar interpretation attached to this variant.

Megalencephaly1unmapped disease
MTOR E1799K	Everolimus	Predictive	D	Supports Sensitivity Response	3	submitted	EID9486 Three siblings had a phenotype which overlaps with known megalencephaly syndromes and RASopathies, including Costello syndrome, and were all heterozygous for mTOR c.5395G>A; p.Glu1799Lys. Peripheral b… (full text at CIViC) PMID 25851998 · Baynam et al., 2015 · Open in CIViC	civic