MLH1 A681V

CI-VAR-00000122Explore in graph →NP_000240.1:p.Ala681ValNM_000249.3:c.2042C>TClinVar 90011 CIViC 760 rs63750864

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 A681V	(oncogenic)	Oncogenic	C	Supports Oncogenicity	1	accepted	EID1824 This variant (A681V), identified in a case of microsatellite-unstable colorectal cancer was confirmed to be somatic in a 52 year-old male patient with suspected Lynch Syndrome (LS). The patient was th… (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
90011	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Hereditary nonpolyposis colorectal neoplasms; Colorectal cancer, hereditary nonpolyposis, type 2; Mismatch repair cancer syndrome 1; Muir-Torré syndrome; Hereditary cancer-predisposing syndrome	germline	6	Dec 11, 2024