PLEC NM_201384.3(PLEC):c.6278C>T (p.Ala2093Val)

CI-VAR-00049646Explore in graph →p.Ala2093ValNM_201384.3:c.6278C>TClinVar 281695 rs782190474

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
281695	Uncertain significance	criteria provided, multiple submitters, no conflicts	2	Epidermolysis bullosa simplex with nail dystrophy; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q; Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Inborn genetic diseases; Malignant tumor of esophagus	germline	7	Feb 02, 2026	clinvar