NF1 NM_001042492.3(NF1):c.1019_1020del (p.Ser340fs)

CI-VAR-00101086Explore in graph →p.Ser340fsNM_001042492.3:c.1019_1020delClinVar 547579 rs1555610903

Curated evidence

Evidence by cancer (0 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.

Data not yet available

No curated evidence item references this variant yet.

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
547579	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Neurofibromatosis, type 1; Tibial pseudarthrosis; Neurofibromatosis-Noonan syndrome; Hereditary cancer-predisposing syndrome; Cardiovascular phenotype; Neoplasm; NF1-related disorder	germline/somatic	15	Mar 17, 2026	clinvar