KMT2D Loss

CI-VAR-00002490Explore in graph →CIViC 2234

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
Lung Squamous Cell Carcinoma1
KMT2D Loss	Afatinib + SHP2 InhibitorCombination	Predictive	D	Supports Sensitivity Response	3	submitted	EID12776 In preclinical lung squamous cell carcinoma models, KMT2D loss increased sensitivity to SHP2 inhibition (SHP099) and pan-ERBB inhibition (afatinib). Enhanced growth suppression was observed in Kmt2d-d… (full text at CIViC) PMID 36525973 · Pan et al., 2023 · Open in CIViC	civic
Malignant Prostate Neoplasm1
KMT2D Loss	Carboplatin + Doxorubicin + OlaparibSubstitutes	Predictive	D	Supports Sensitivity Response	2	submitted

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.

Kabuki Syndrome1unmapped disease
KMT2D Loss	HDAC Inhibitor REC-2282	Predictive	D	Supports Sensitivity Response	3	submitted	EID5993 In a mouse model of Kabuki syndrome with a heterozygous deletion in the gene encoding the lysine-specific methyltransferase 2D (Kmt2d), reduction in histone 4 acetylation and histone 3 lysine 4 trimet… (full text at CIViC) PMID 25273096 · Bjornsson et al., 2014 · Open in CIViC	civic

Kabuki Syndrome1unmapped disease

KMT2D Loss

HDAC Inhibitor REC-2282

Predictive

Supports Sensitivity Response

submitted

EID5993

In a mouse model of Kabuki syndrome with a heterozygous deletion in the gene encoding the lysine-specific methyltransferase 2D (Kmt2d), reduction in histone 4 acetylation and histone 3 lysine 4 trimet… (full text at CIViC)

PMID 25273096 · Bjornsson et al., 2014 · Open in CIViC

civic