Is EVC p.Lys241Ter (c.720dup) pathogenic?

EVC p.Lys241Ter (c.720dup) is classified Pathogenic in EVC (ClinVar, Single submitter, 1 submitter; last evaluated 2022-06-09). No gnomAD frequency available for this variant; Associated with acrofacial dysostosis, Weyers type.

What condition is associated with EVC p.Lys241Ter (c.720dup)?

EVC p.Lys241Ter (c.720dup) is associated with acrofacial dysostosis, Weyers type, Ellis-van Creveld syndrome (ClinVar).

How common is EVC p.Lys241Ter (c.720dup) in the general population?

EVC p.Lys241Ter (c.720dup) is no gnomAD frequency available for this variant (gnomAD).

EVC p.Lys241Ter

c.720dup · rs1553871764 · VCV1069802

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

nonsense (stop-gain)

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

acrofacial dysostosis, Weyers type

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	nonsense (stop-gain)	predicted loss-of-function
NMD	predicted	premature termination codon in exon 6 of 21
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 5	GERP 1.7, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

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: EVC
Protein: p.Lys241Ter
Coding: c.720dup
MANE Select: NM_153717
dbSNP: rs1553871764
Type: Duplication
Location: chr4:5741728 (GRCh38)
Gene constraint: LOEUF 1.134 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 74.49

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

Disease context

acrofacial dysostosis, Weyers type — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: Ellis-van Creveld syndrome

Similar variants

EVC p.Lys241delinsPhePhePhePhePhePheXaaXaaXaaXaaSerTer Pathogenic ★ same residue
EVC p.Arg304fs Pathogenic/Likely pathogenic ★★ same condition
EVC p.Glu292Ter Pathogenic ★★ same condition
EVC p.Glu552fs Pathogenic/Likely pathogenic ★★ same condition
EVC p.His233fs Pathogenic/Likely pathogenic ★★ same condition
EVC p.Lys252fs Pathogenic ★★ same condition
EVC p.Thr463fs Pathogenic/Likely pathogenic ★★ same condition
EVC p.Tyr258Ter Pathogenic/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/evc-p-lys241ter (accessed [today's date]).

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