Is ADAR p.Arg100Ala (c.298_299delinsGC) pathogenic?

ADAR p.Arg100Ala (c.298299delinsGC) is classified Uncertain significance in ADAR (ClinVar, Single submitter, 1 submitter; last evaluated 2023-04-22). Absent from gnomAD; Associated with dyschromatosis symmetrica hereditaria.

What condition is associated with ADAR p.Arg100Ala (c.298_299delinsGC)?

ADAR p.Arg100Ala (c.298_299delinsGC) is associated with dyschromatosis symmetrica hereditaria, Aicardi-Goutieres syndrome 6 (ClinVar).

How common is ADAR p.Arg100Ala (c.298_299delinsGC) in the general population?

ADAR p.Arg100Ala (c.298_299delinsGC) is absent from gnomAD (gnomAD).

How is Dyschromatosis symmetrica hereditaria inherited?

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

ADAR p.Arg100Ala

c.298_299delinsGC · rs2526668652 · VCV2947008

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

dyschromatosis symmetrica hereditaria

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -0.045	GERP -3.4
Regional constraint	o/e 0.96	unconstrained · MANE · 6,556 bp · p 0.34 · regional, not allelic

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: ADAR
Protein: p.Arg100Ala
Coding: c.298_299delinsGC
MANE Select: NM_001111
dbSNP: rs2526668652
Type: Indel
Location: chr1:154602343 (GRCh38)
Gene constraint: LOEUF 0.449 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 68.86 · 24 PDB
Residue 100: a UniProt-annotated variant site (in)

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

Disease context

dyschromatosis symmetrica hereditaria — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: Aicardi-Goutieres syndrome 6

For Dyschromatosis symmetrica hereditaria (Orphanet):

Inheritance: Autosomal dominant
Onset: Childhood

Similar variants

ADAR p.Arg100fs Pathogenic ★ same residue
ADAR p.Arg100= Benign ★ same residue
ADAR p.Arg100Gly Likely benign ★ same residue
ADAR p.Ala379Leu Uncertain significance ★ same condition
ADAR p.Arg1032Tyr Uncertain significance ★ same condition
ADAR p.Met881Ser Uncertain significance ★ same condition
ADAR c.2885+1G>A Likely pathogenic ★★ same condition
ADAR p.Ala813fs Pathogenic/Likely pathogenic ★★ 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/adar-p-arg100ala (accessed [today's date]).

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