MKS1 NM_017777.4(MKS1):c.857A>G (p.Asp286Gly)

CI-VAR-00071685Explore in graph →p.Asp286GlyNM_017777.4:c.857A>GClinVar 445724 rs151023718

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
445724	Uncertain significance	criteria provided, multiple submitters, no conflicts	2	Meckel-Gruber syndrome; Joubert syndrome; Bardet-Biedl syndrome 13; Meckel syndrome, type 1; Joubert syndrome 28; MKS1-related disorder; Melanoma; Acute myeloid leukemia; Malignant tumor of esophagus; Familial cancer of breast; Clear cell carcinoma of kidney	germline	18	Aug 12, 2025	clinvar