Is EVC p.Ala24= (c.72G>T) pathogenic?

EVC p.Ala24= (c.72G>T) is classified Likely benign in EVC (ClinVar, Single submitter, 1 submitter; last evaluated 2023-11-13). No allele count reported in gnomAD v4.1 (AN 1,031,794); Associated with Ellis-van Creveld syndrome.

What condition is associated with EVC p.Ala24= (c.72G>T)?

EVC p.Ala24= (c.72G>T) is associated with Ellis-van Creveld syndrome, acrofacial dysostosis, Weyers type (ClinVar).

How common is EVC p.Ala24= (c.72G>T) in the general population?

EVC p.Ala24= (c.72G>T) is no allele count reported in gnomAD v4.1 (AN 1,031,794) (gnomAD).

EVC p.Ala24=

c.72G>T · rs1004037341 · VCV1947534

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,031,794)

Conditions

Ellis-van Creveld syndrome

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 1.3	GERP -2.5, phastCons 0.85
Overall
CADD	6.096	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,031,794). 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.Ala24=
Coding: c.72G>T
MANE Select: NM_153717
dbSNP: rs1004037341
Type: single nucleotide variant
Location: chr4:5711452 (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

Also linked: acrofacial dysostosis, Weyers type

Similar variants

EVC p.Ala24Glu Benign ★ same residue
EVC p.Ala24Thr Uncertain significance ⚠ same residue
EVC p.Ala24Ser Uncertain significance ★★ ⚠ same residue
EVC p.Ala24Val Likely benign ★ same residue
EVC c.1098+1G>A Pathogenic/Likely pathogenic ★★ same condition
EVC c.175-2A>G Pathogenic/Likely pathogenic ★★ same condition
EVC c.1777-1G>A Pathogenic/Likely pathogenic ★★ same condition
EVC c.1777-2A>G 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-ala24 (accessed [today's date]).

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