Is ENG p.Val236del (c.706_708del) pathogenic?

ENG p.Val236del (c.706708del) is classified Conflicting classifications of pathogenicity in ENG (ClinVar, Conflicting submitters, 3 submitters; last evaluated 2025-04-19). Absent from gnomAD; Associated with Cardiovascular phenotype.

What condition is associated with ENG p.Val236del (c.706_708del)?

ENG p.Val236del (c.706_708del) is associated with Cardiovascular phenotype, hereditary hemorrhagic telangiectasia (ClinVar).

How common is ENG p.Val236del (c.706_708del) in the general population?

ENG p.Val236del (c.706_708del) is absent from gnomAD (gnomAD).

ENG p.Val236del

c.706_708del · rs1064794221 · VCV419983

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 3 submitters

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

Cardiovascular phenotype

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 2.2	GERP -1.7, phastCons 1

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: ENG
Protein: p.Val236del
Coding: c.706_708del
MANE Select: NM_001114753
dbSNP: rs1064794221
Type: Deletion
Location: chr9:127825339 (GRCh38)
Gene constraint: LOEUF 0.374 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 80.84 · 3 PDB
Residue 236: a β-strand; a UniProt-annotated variant site (in hht1; uncertain significance); the 'required for interaction with gdf2' region; the 'or1, c-terminal part' region

Full ENG gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Cardiovascular phenotype — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: hereditary hemorrhagic telangiectasia

Similar variants

ENG p.Val236= Likely benign ★★ same residue
ENG p.Val236Met Likely pathogenic ★ ⚠ same residue
ENG p.Val236Ter Pathogenic ★ same residue
ENG p.Val236Ala Uncertain significance ★ ⚠ same residue
ENG p.Val236Glu Conflicting classifications of pathogenicity ★ ⚠ same residue
ENG c.1687delG Pathogenic ★★ same condition
ENG p.Ala55fs Pathogenic ★★ same condition
ENG p.Arg232_Thr233del Likely pathogenic ★★ same condition

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/eng-p-val236del (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown