TPP1 NM_000391.4(TPP1):c.509-1G>C

CI-VAR-00005275Explore in graph →NM_000391.4:c.509-1G>CClinVar 2644 rs56144125

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
2644	Pathogenic	criteria provided, multiple submitters, no conflicts	2	Neuronal ceroid lipofuscinosis 2; Autosomal recessive spinocerebellar ataxia 7; Inborn genetic diseases; Neuronal ceroid lipofuscinosis; TPP1-related disorder; Familial cancer of breast; Ovarian serous cystadenocarcinoma; Lung cancer; Malignant tumor of urinary bladder; Autosomal recessive TPP1-related disorders; Retinal disorder	germline	43	Mar 03, 2026	clinvar