Is EVC p.Val329fs (c.985_986insATCTT) pathogenic?

EVC p.Val329fs (c.985986insATCTT) is classified Likely pathogenic in EVC (ClinVar, Single submitter, 1 submitter; last evaluated 2022-01-25). No gnomAD frequency available for this variant; Associated with Ellis-van Creveld syndrome.

What condition is associated with EVC p.Val329fs (c.985_986insATCTT)?

EVC p.Val329fs (c.985_986insATCTT) is associated with Ellis-van Creveld syndrome (ClinVar).

How common is EVC p.Val329fs (c.985_986insATCTT) in the general population?

EVC p.Val329fs (c.985_986insATCTT) is no gnomAD frequency available for this variant (gnomAD).

EVC p.Val329fs

c.985_986insATCTT · rs2475161271 · VCV1724099

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

Ellis-van Creveld syndrome

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 8 of 21
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 0.96	GERP -0.2, phastCons 0.3

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.Val329fs
Coding: c.985_986insATCTT
MANE Select: NM_153717
dbSNP: rs2475161271
Type: Insertion
Location: chr4:5748193 (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

Ellis-van Creveld syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

EVC p.Val329= Likely benign ★ same residue
EVC p.Ala2fs Likely pathogenic ★ same condition
EVC p.Asn196Ter Likely pathogenic ★ same condition
EVC p.Cys334fs Likely pathogenic ★ same condition
EVC p.Gln716fs Pathogenic ★ same condition
EVC p.Glu628fs Likely pathogenic ★ same condition
EVC p.Glu629fs Pathogenic ★ same condition
EVC p.Gly4fs 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-val329fs (accessed [today's date]).

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