EVC2 p.Val189fs
c.565_566delinsC · VCV4966244
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
EVC2-related disorders
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 5 of 22 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 1.6, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- EVC2
- Protein
- p.Val189fs
- Coding
- c.565_566delinsC
- MANE Select
- NM_147127
- Type
- Indel
- Location
- chr4:5689297 (GRCh38)
- Gene constraint
- LOEUF 1.092 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 73.33
Disease context
EVC2-related disorders
Similar variants
- EVC2 p.Val189Leu Uncertain significance ★★ same residue
- EVC2 p.Val189Asp Uncertain significance ★ ⚠ same residue
- EVC2 c.229-2A>G Likely pathogenic ★★ same condition
- EVC2 p.Arg399Ter Pathogenic ★★ same condition
- EVC2 p.Arg677Ter Pathogenic ★★ same condition
- EVC2 p.Gln45Ter Pathogenic/Likely pathogenic ★★ same condition
- EVC2 p.Ser223Ter Pathogenic/Likely pathogenic ★★ same condition
- EVC2 p.Asp734Asn Uncertain significance ★★ ⚠ 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/evc2-p-val189fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown