Variant · Snv
MCPH1 NM_024596.5(MCPH1):c.1738A>G (p.Ser580Gly)
CI-VAR-00022438Explore in graph →p.Ser580GlyNM_024596.5:c.1738A>GClinVar 138185 rs17076894
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
- 2026-09-06
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260908-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 138185 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Microcephaly 1, primary, autosomal recessive; Clear cell carcinoma of kidney; Gastric cancer; Uterine corpus endometrial carcinoma; Colon adenocarcinoma; Ovarian serous cystadenocarcinoma; Uterine carcinosarcoma; Malignant tumor of esophagus; Lung cancer; Cervical cancer | germline | 7 | Feb 02, 2026 | clinvar |