Is GATA4 p.Pro14= (c.42C>T) pathogenic?

GATA4 p.Pro14= (c.42C>T) is classified Likely benign in GATA4 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2024-11-06). No allele count reported in gnomAD v4.1 (AN 1,583,022); Associated with Cardiovascular phenotype.

What condition is associated with GATA4 p.Pro14= (c.42C>T)?

GATA4 p.Pro14= (c.42C>T) is associated with Cardiovascular phenotype (ClinVar).

How common is GATA4 p.Pro14= (c.42C>T) in the general population?

GATA4 p.Pro14= (c.42C>T) is no allele count reported in gnomAD v4.1 (AN 1,583,022) (gnomAD).

GATA4 p.Pro14=

c.42C>T · VCV3519053

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,583,022)

Conditions

Cardiovascular phenotype

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.047	moderately benign-leaning
Splicing
SpliceAI	<0.2	no splice effect predicted · four deltas, not one · how we know
Constraint at this position
Conservation	phyloP -0.57	GERP -3.4, phastCons 0.022
Overall
CADD	4.96	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,583,022). 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: GATA4
Protein: p.Pro14=
Coding: c.42C>T
MANE Select: NM_001308093
Type: single nucleotide variant
Location: chr8:11708354 (GRCh38)
Gene constraint: LOEUF 0.468 · pLI 0.99 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 58.64 · 3 PDB

Full GATA4 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

Similar variants

GATA4 p.Pro14Arg Uncertain significance ★★ same residue
GATA4 p.Pro14Leu Uncertain significance ★ ⚠ same residue
GATA4 c.1001-3C>T Uncertain significance ★★ same condition
GATA4 p.Ala138Gly Uncertain significance ★★ ⚠ same condition
GATA4 p.Ala139Thr Uncertain significance ★★ ⚠ same condition
GATA4 p.Ala155Val Uncertain significance ★★ ⚠ same condition
GATA4 p.Ala171Gly Uncertain significance ★★ ⚠ same condition
GATA4 p.Ala196Thr 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/gata4-p-pro14 (accessed [today's date]).

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