Is STING1 p.Arg71= (c.213C>T) pathogenic?

STING1 p.Arg71= (c.213C>T) is classified Likely benign in STING1 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-07-29). Very rare (popmax 0.0011%, sas); Associated with STING-associated vasculopathy with onset in infancy.

What condition is associated with STING1 p.Arg71= (c.213C>T)?

STING1 p.Arg71= (c.213C>T) is associated with STING-associated vasculopathy with onset in infancy (ClinVar).

How common is STING1 p.Arg71= (c.213C>T) in the general population?

STING1 p.Arg71= (c.213C>T) is very rare (popmax 0.0011%, sas) (gnomAD).

STING1 p.Arg71=

Q: How is STING-associated vasculopathy with onset in infancy inherited?

Typically Autosomal dominant (Orphanet). A genetic counselor can assess individual risk for a family.

c.213C>T · rs780192807 · VCV2748338

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.0011%, sas)

Conditions

STING-associated vasculopathy with onset in infancy

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 0.63	GERP -1.5, phastCons 0.051
Overall
CADD	8.568	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0011% South Asian · 1/91,080 alleles

Overall 6.2e-05% 1/1,613,646 alleles · very rare exomes 0/1,461,462 · genomes 1/152,184 · joint denominator

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: STING1
Protein: p.Arg71=
Coding: c.213C>T
MANE Select: NM_198282
dbSNP: rs780192807
Type: single nucleotide variant
Location: chr5:139481492 (GRCh38)
Gene constraint: LOEUF 0.846 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 84.13 · 125 PDB
Residue 71: the 'mediates interaction with zdhhc1 and zdhhc11' region; an α-helix; a UniProt-annotated variant site (in)

Full STING1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

STING-associated vasculopathy with onset in infancy — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For STING-associated vasculopathy with onset in infancy (Orphanet):

Inheritance: Autosomal dominant
Onset: Infancy
Prevalence: <1 / 1 000 000 (Worldwide)

Similar variants

STING1 p.Arg71Ser Uncertain significance ★★ ⚠ same residue
STING1 p.Arg71His Benign/Likely benign ★★ same residue
STING1 p.Arg71Cys Uncertain significance ★ ⚠ same residue
STING1 p.Arg71Gln Uncertain significance ★ same residue
STING1 p.Arg281Gln Pathogenic/Likely pathogenic ★★ ⚠ same condition
STING1 p.Arg284Ser Pathogenic ★★ same condition
STING1 p.Val155Met Pathogenic ★★ ⚠ same condition
STING1 c.946+1G>T 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/sting1-p-arg71 (accessed [today's date]).

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