Variant · Snv
MCPH1 NM_024596.5(MCPH1):c.1728C>T (p.Gly576=)
CI-VAR-00025113Explore in graph →p.Gly576=NM_024596.5:c.1728C>TClinVar 158825 rs41313954
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 |
|---|---|---|---|---|---|---|---|---|
| 158825 | Benign | criteria provided, multiple submitters, no conflicts | 2 | Microcephaly 1, primary, autosomal recessive; Colon adenocarcinoma; Ovarian serous cystadenocarcinoma; Uterine carcinosarcoma; Sarcoma; Acute myeloid leukemia; Thymoma; Melanoma; Lung cancer; Cholangiocarcinoma; Colorectal cancer; Lymphoma; Nonpapillary renal cell carcinoma; Cervical cancer; Uterine corpus endometrial carcinoma; Uveal melanoma; Familial pancreatic carcinoma; Malignant lymphoma, large B-cell, diffuse; Ovarian cancer | germline | 10 | Feb 04, 2026 | clinvar |