KIT M541L

CI-VAR-00002596Explore in graph →NP_000213.1:p.Met541LeuNM_000222.2:c.1621A>CClinVar 41599 CIViC 201 rs3822214

Curated evidence

Evidence by cancer (4 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 1–4 of 4 evidence items across 4 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
Chronic Leukemia1
KIT M541L	Imatinib	Predictive	C	Supports Sensitivity Response	2	accepted	EID1423 In 5 patients with KIT M541L mutation-positive chronic eosinophilic leukemia (4 somatic and 1 germline mutation), treatment with low dose imatinib resulted in complete and lasting remission with a med… (full text at CIViC) PMID 25015329 · Iurlo et al., 2014 · Open in CIViC	civic
Chronic Myeloid Leukemia, BCR-ABL1 Positive1
KIT M541L	(diagnostic)	Diagnostic	B	Does Not Support Positive	4	accepted	EID485 M541L mutation was not associated with CML in caucasian patients, and was common among healthy controls (8.1%), in contrast to a previous study in a Japanese CML patient population in which M541L was … (full text at CIViC) PMID 16307017 ·

ClinVar

Clinical significance (1)

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

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
41599	Benign/Likely benign	criteria provided, multiple submitters, no conflicts	2	Mastocytosis; Piebaldism; Gastrointestinal stromal tumor; Hereditary cancer-predisposing syndrome; Lip and oral cavity carcinoma	germline/somatic	15	Jun 04, 2026	clinvar

Merkel Cell Carcinoma1
KIT M541L	(diagnostic)	Diagnostic	B	Does Not Support Positive	3	submitted	EID9698 Study evaluated 42 cases with aggressive fibromatosis were genotyped for the M541L (c.1621 A>C; rs3822214) was evaluated and compared to gender- and age-matched 126 healthy controls. In 4/7 cases with… (full text at CIViC) PMID 21757432 · Grabellus et al., 2011 · Open in CIViC	civic

Colon Signet Ring Adenocarcinoma1unmapped disease
KIT M541L	Imatinib	Predictive	E	Supports Sensitivity Response	2	accepted	EID7195 In a study of 44 signet ring cell colorectal cancer cases, 25% were found to carry a KIT M541L mutation. The authors speculate that this relatively high frequency of KIT mutations (actionable in other… (full text at CIViC) PMID 28595259 · Alvi et al., 2017 · Open in CIViC	civic