Is RASA1 p.Ser69= (c.207A>T) pathogenic?

RASA1 p.Ser69= (c.207A>T) is classified Likely benign in RASA1 (ClinVar, Single submitter, 1 submitter; last evaluated 2026-03-12). Absent from gnomAD v4.1; Associated with Cardiovascular phenotype.

What condition is associated with RASA1 p.Ser69= (c.207A>T)?

RASA1 p.Ser69= (c.207A>T) is associated with Cardiovascular phenotype (ClinVar).

How common is RASA1 p.Ser69= (c.207A>T) in the general population?

RASA1 p.Ser69= (c.207A>T) is absent from gnomAD v4.1 (gnomAD).

RASA1 p.Ser69=

c.207A>T · VCV4827578

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 -1.8	GERP -1.9
Overall
CADD	5.865	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: RASA1
Protein: p.Ser69=
Coding: c.207A>T
MANE Select: NM_002890
Type: single nucleotide variant
Location: chr5:87268658 (GRCh38)
Gene constraint: LOEUF 0.3 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 77.37 · 15 PDB

Full RASA1 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

RASA1 p.Ala23Thr Uncertain significance ★★ ⚠ same condition
RASA1 p.Ala32Val Uncertain significance ★★ ⚠ same condition
RASA1 p.Ala96Val Uncertain significance ★★ ⚠ same condition
RASA1 p.Gly133Asp Uncertain significance ★★ ⚠ same condition
RASA1 p.Gly151Arg Uncertain significance ★★ same condition
RASA1 p.Gly85Ala Uncertain significance ★★ ⚠ same condition
RASA1 p.Gly88Arg Uncertain significance ★★ ⚠ same condition
RASA1 p.Leu124Phe 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/rasa1-p-ser69 (accessed [today's date]).

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