MLH1 R100*

CI-VAR-00003604Explore in graph →NP_000240.1:p.Arg100TerNM_000249.3:c.298C>TClinVar 36550 CIViC 741 rs63751221

Curated evidence

Evidence by cancer (1 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 1–1 of 1 evidence items across 1 cancer context 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 Colorectal Neoplasm1
MLH1 R100*	(oncogenic)	Oncogenic	C	Supports Oncogenicity	1	accepted	EID1804 R100* (c.298C > T), identified in a case of microsatellite-unstable colorectal cancer, was confirmed to be somatic in a 46 year old female patient with suspected Lynch Syndrome (LS). The patient was t… (full text at CIViC) PMID 25111426 · Geurts-Giele et al., 2014 · Open in CIViC	civic

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
36550	Pathogenic	reviewed by expert panel	3	Lynch syndrome; Colorectal cancer, hereditary nonpolyposis, type 2; Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neoplasms; Lynch-like syndrome; Inherited MMR deficiency (Lynch syndrome)	germline/somatic	20	Sep 05, 2013	clinvar