Is DRD2 p.Arg61= (c.183C>A) pathogenic?

DRD2 p.Arg61= (c.183C>A) is classified Benign in DRD2 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-01-28). Ultra-rare (popmax 0.0768%, sas); Associated with dystonic disorder.

What condition is associated with DRD2 p.Arg61= (c.183C>A)?

DRD2 p.Arg61= (c.183C>A) is associated with dystonic disorder (ClinVar).

How common is DRD2 p.Arg61= (c.183C>A) in the general population?

DRD2 p.Arg61= (c.183C>A) is ultra-rare (popmax 0.0768%, sas) (gnomAD).

DRD2 p.Arg61=

c.183C>A · rs201945675 · VCV2711919

Benign Single submitter

Classification

Benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

ultra-rare (popmax 0.0768%, sas)

Conditions

dystonic disorder

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 -9.3	GERP -5.7
Overall
CADD	0.4	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0768% South Asian · 70/91,088 alleles

Filtering AF 0.0624% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0571%

Overall 0.00434% 70/1,614,224 alleles · ultra-rare exomes 66/1,461,892 · genomes 4/152,332 · 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: DRD2
Protein: p.Arg61=
Coding: c.183C>A
MANE Select: NM_000795
dbSNP: rs201945675
Type: single nucleotide variant
Location: chr11:113424469 (GRCh38)
Gene constraint: LOEUF 0.372 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 72.49 · 11 PDB
Residue 61: an α-helix

Full DRD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

dystonic disorder — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

DRD2 p.Arg61Cys Uncertain significance ★ ⚠ same residue
DRD2 p.Arg61His Uncertain significance ★ same residue
DRD2 p.Arg274Gln Uncertain significance ★★ ⚠ same condition
DRD2 p.Gln366Lys Uncertain significance ★★ ⚠ same condition
DRD2 p.Glu99Lys Uncertain significance ★★ ⚠ same condition
DRD2 p.Gly261Arg Uncertain significance ★★ ⚠ same condition
DRD2 p.His316Pro Uncertain significance ★★ ⚠ same condition
DRD2 p.Ile431Thr 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/drd2-p-arg61 (accessed [today's date]).

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