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

CI-VAR-00047367Explore in graph →NM_002778.4:c.1350+5G>AClinVar 258809 rs11000016

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
258809	Benign/Likely benign	criteria provided, multiple submitters, no conflicts	2	Combined PSAP deficiency; Metachromatic leukodystrophy; Gaucher disease due to saposin C deficiency; Krabbe disease due to saposin A deficiency; Sphingolipid activator protein 1 deficiency; Uterine carcinosarcoma; Malignant lymphoma, large B-cell, diffuse	germline	10	Feb 04, 2026	clinvar