TFE3 NM_006521.6(TFE3):c.560C>T (p.Thr187Met)

CI-VAR-00169761Explore in graph →p.Thr187MetNM_006521.6:c.560C>TClinVar 985315 rs2064742925

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
985315	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Inborn genetic diseases; Neurodevelopmental abnormality; Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies; Renal cell carcinoma; TFE3-related disorder	germline	14	Jan 26, 2026	clinvar