ITCH NM_031483.7(ITCH):c.1146A>G (p.Gln382=)

CI-VAR-00080696Explore in graph →p.Gln382=NM_031483.7:c.1146A>GClinVar 471415 rs141828786

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
471415	Benign/Likely benign	criteria provided, multiple submitters, no conflicts	2	Syndromic multisystem autoimmune disease due to ITCH deficiency; ITCH-related disorder; Acute myeloid leukemia; Cervical cancer; Melanoma; Malignant tumor of esophagus; Sarcoma; Gastric cancer; Thyroid cancer, nonmedullary, 1	germline	7	Jun 01, 2026	clinvar