Variant · Snv
SMPD1 NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val)
CI-VAR-00042351Explore in graph →p.Ala487ValNM_000543.5:c.1460C>TClinVar 235490 rs141641266
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.
clinvarProvenance
- Source
- NCBI ClinVar (variant_summary)
- Dataset
- ClinVar variant_summary
- Version
- 2026-09-24
- Retrieved
- Sep 29, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260929-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 235490 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Niemann-Pick disease, type A; Niemann-Pick disease, type B; Hepatocellular carcinoma; Nonpapillary renal cell carcinoma; Lung cancer; Cervical cancer; Uveal melanoma; Colon adenocarcinoma; Gastric cancer; Ovarian serous cystadenocarcinoma; Clear cell carcinoma of kidney; Uterine carcinosarcoma; Thyroid cancer, nonmedullary, 1; Malignant tumor of urinary bladder; Familial cancer of breast; Uterine corpus endometrial carcinoma; Thymoma; Melanoma | germline | 13 | Mar 01, 2026 | clinvar |