PSAP NM_002778.4(PSAP):c.1350+5G>T

CI-VAR-00362845Explore in graph →NM_002778.4:c.1350+5G>TClinVar 3597229

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
3597229	Uncertain significance	criteria provided, single submitter	1	Combined PSAP deficiency; Sphingolipid activator protein 1 deficiency; Gaucher disease due to saposin C deficiency; Parkinson disease 24, autosomal dominant, susceptibility to; Krabbe disease due to saposin A deficiency; Ovarian serous cystadenocarcinoma	germline	2	Jan 05, 2024	clinvar