PTPN11 D61Y

CI-VAR-00000517Explore in graph →NP_002825.3:p.Asp61TyrNM_002834.5:c.181G>TClinVar 228392 CIViC 2573 rs397507510

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
Juvenile Myelomonocytic Leukemia1
PTPN11 D61Y	(diagnostic)	Diagnostic	B	Supports Positive	3	submitted	EID6967 We identified missense mutations in PTPN11 in 21 of 62 individuals with JMML but without Noonan syndrome (34%; 95% confidence interval (c.i.) = 22–47%), with nine different molecular defects in exon 3… (full text at CIViC) PMID 12717436 · Tartaglia et al., 2003 · 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
228392	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications	1	Juvenile myelomonocytic leukemia; Noonan syndrome 1; Low grade glioma; RASopathy; Embryonal rhabdomyosarcoma	germline/somatic	8	Nov 19, 2025	clinvar