Is GATA4 p.Arg201= (c.603A>C) pathogenic?

GATA4 p.Arg201= (c.603A>C) is classified Likely benign in GATA4 (ClinVar, Single submitter, 1 submitter; last evaluated 2021-05-20). Absent from gnomAD v4.1; Associated with Cardiovascular phenotype.

What condition is associated with GATA4 p.Arg201= (c.603A>C)?

GATA4 p.Arg201= (c.603A>C) is associated with Cardiovascular phenotype (ClinVar).

How common is GATA4 p.Arg201= (c.603A>C) in the general population?

GATA4 p.Arg201= (c.603A>C) is absent from gnomAD v4.1 (gnomAD).

GATA4 p.Arg201=

c.603A>C · rs1226373895 · VCV1751210

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

Cardiovascular phenotype

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 1
Overall
CADD	8.013	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: GATA4
Protein: p.Arg201=
Coding: c.603A>C
MANE Select: NM_001308093
dbSNP: rs1226373895
Type: single nucleotide variant
Location: chr8:11708915 (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.Arg201Gln Uncertain significance ★ ⚠ same residue
GATA4 p.Arg201Gly 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-arg201 (accessed [today's date]).

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