Variant · Snv
MLH1 G67R
CI-VAR-00001785Explore in graph →NP_000240.1:p.Gly67ArgNM_000249.3:c.199G>AClinVar 89992 CIViC 757 rs63750206
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.
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 25111426
- Run
- ING-CIVIC-20260908-000001
| Molecular profile | Therapy | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| Malignant Colorectal Neoplasm1 | ||||||||
| MLH1 G67R | (oncogenic) | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1821This variant (G67R), identified in a case of microsatellite-unstable colorectal cancer was confirmed to be somatic in a 61 year-old male patient (sLS-18) with suspected Lynch Syndrome (LS). The patien… (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.
- Source
- NCBI ClinVar (variant_summary)
- Dataset
- ClinVar variant_summary
- Version
- 2026-09-06
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260908-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 89992 | Pathogenic | reviewed by expert panel | 3 | Lynch syndrome; Hereditary cancer-predisposing syndrome; Colorectal cancer, hereditary nonpolyposis, type 2; Hereditary nonpolyposis colorectal neoplasms; Lynch-like syndrome; Hereditary nonpolyposis colon cancer; Lynch syndrome 1; Carcinoma of colon | germline/somatic | 26 | Sep 05, 2013 |