Is AGTR1 p.Arg13fs (c.37del) pathogenic?

AGTR1 p.Arg13fs (c.37del) is classified Uncertain significance in AGTR1 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-01-07). Absent from gnomAD; Associated with AGTR1-related disorder.

What condition is associated with AGTR1 p.Arg13fs (c.37del)?

AGTR1 p.Arg13fs (c.37del) is associated with AGTR1-related disorder (ClinVar).

How common is AGTR1 p.Arg13fs (c.37del) in the general population?

AGTR1 p.Arg13fs (c.37del) is absent from gnomAD (gnomAD).

AGTR1 p.Arg13fs

c.37del · rs2472792259 · VCV2630021

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

AGTR1-related disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	escapes	premature termination codon in the last exon (3 of 3) — the truncated protein is likely expressed. PVS1 input, not an applied code
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -0.068	GERP -3.8, phastCons 0.88

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: AGTR1
Protein: p.Arg13fs
Coding: c.37del
MANE Select: NM_000685
dbSNP: rs2472792259
Type: Deletion
Location: chr3:148741069 (GRCh38)
Gene constraint: LOEUF 1.113 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 82.55 · 14 PDB
Residue 13: a β-strand

Full AGTR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

AGTR1-related disorder

Similar variants

AGTR1 p.Arg13Gly Uncertain significance ★ ⚠ same residue
AGTR1 p.Phe208Leu Uncertain significance ★ ⚠ same condition
AGTR1 c.-47-1034C>T Likely benign same condition
AGTR1 c.-47-1064C>G Likely benign same condition
AGTR1 p.Tyr113= Likely benign same condition
AGTR1 p.Leu78fs Pathogenic/Likely pathogenic ★★ same type
AGTR1 p.Pro233fs Likely pathogenic ★★ same type
AGTR1 p.Ala114fs Likely pathogenic ★ same type

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/agtr1-p-arg13fs (accessed [today's date]).

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