ALK R1192P

CI-VAR-00003629Explore in graph →NP_004295.2:p.Arg1192ProNM_004304.4:c.3575G>CClinVar 18085 CIViC 1661 rs113994089

Curated evidence

Evidence by cancer (9 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 1–9 of 9 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 Large Cell Carcinoma1
ALK R1192P	Crizotinib	Predictive	D	Supports Resistance	—	submitted	EID4795 In an in vitro study, a FL5.12 cell line expressing NPM1-ALK (a known sensitizing alteration to crizotinib) and an ALK R1192P co-mutation, demonstrated resistance to crizotinib treatment (IC50: 421.5 … (full text at CIViC) PMID 27009859 · Amin et al., 2016 · Open in CIViC	civic
Malignant Neoplasm6
EML4::ALK Fusion AND ALK R1192P	Alectinib	Predictive	D	Does Not Support Resistance	2	submitted	EID12667 In an in vitro study, a FL5.12 cell line expressing EML4-ALK (known sensitizing alteration to crizotinib) and an ALK R1192P co-mutation, demonstrated similar sensitivity to alectinib treatment (IC50: … (full text at CIViC) PMID ·

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
18085	Pathogenic	criteria provided, single submitter	1	Neuroblastoma, susceptibility to, 3	germline	3	Sep 29, 2021	clinvar

Neuroblastoma2
ALK R1192P	(predisposing)	Predisposing	B	Supports Predisposition	4	rejected	EID7567 A genome-wide scan of single nucleotide polymorphisms in twenty neuroblastoma families identified the ALK gene as being disease linked. Sequencing of ALK exons identified 3 mutations, including R1192P… (full text at CIViC) PMID 18724359 · Mossé et al., 2008 · Open in CIViC	civic
ALK R1192P	(predisposing)	Predisposing	B	Supports Predisposition	4	submitted	EID7569 A genome-wide scan of single nucleotide polymorphisms in twenty neuroblastoma families identified the ALK gene as being disease linked. Sequencing of ALK exons identified 3 mutations, including R1192P… (full text at CIViC) PMID 18724359 · Mossé et al., 2008 · Open in CIViC	civic