Variant · Snv

RET C609Y

CI-VAR-00000326Explore in graph →NP_065681.1:p.Cys609TyrNM_020630.4:c.1826G>AClinVar 13933 CIViC 1260 rs77939446

Curated evidence

Evidence by cancer (2 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 1–2 of 2 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
Thyroid Gland Medullary Carcinoma2
RET C609Y	(predisposing)	Predisposing	B	Supports Predisposition	4	accepted	EID2913 Study of a family with three generations of history indicating co-segregation of RET C609Y and multiple endocrine neoplasia type 2A, many of whom exhibited medullary thyroid cancers specifically. 22 … (full text at CIViC) PMID 19472011 · Calva et al., 2009 · Open in CIViC	civic
RET C609Y	(predisposing)	Predisposing	E	Supports Uncertain Significance	3	submitted	EID2914 This study performed various functional characterizations of several RET mutations known to occur as pathogenic germline variants in multiple endocrine neoplasia type 2 and medullary thyroid cancer. S… (full text at CIViC) PMID 16715139 · Mise et al., 2006 · 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
13933	Pathogenic	criteria provided, multiple submitters, no conflicts	2	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE; Multiple endocrine neoplasia, type 2; Multiple endocrine neoplasia type 2A; Familial medullary thyroid carcinoma; Hereditary cancer-predisposing syndrome; Hirschsprung disease, susceptibility to, 1; RET-related disorder	germline	21	Jan 13, 2026