Is DRP2 p.Arg94= (c.282C>T) pathogenic?

DRP2 p.Arg94= (c.282C>T) is classified Uncertain significance in DRP2 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-07-24). Very rare (popmax 0.00268%, sas).

How common is DRP2 p.Arg94= (c.282C>T) in the general population?

DRP2 p.Arg94= (c.282C>T) is very rare (popmax 0.00268%, sas) (gnomAD).

DRP2 p.Arg94=

c.282C>T · rs1922555348 · VCV1522322

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.00268%, sas)

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 -8.7	GERP -3.4
Overall
CADD	0.168	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00268% South Asian · 1/37,290 alleles

Filtering AF 0.000609% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000444%

Overall 0.00127% 14/1,100,226 alleles · very rare

Ancestry group	Frequency	1 in
South Asiangrpmax	0.00268%	37,290
Admixed American	0.00264%	37,874
Remaining individualsnot grpmax-eligible	0.00237%	42,231
African / African-American	0.00182%	54,802
European (non-Finnish)	0.0012%	83,022

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: DRP2
Protein: p.Arg94=
Coding: c.282C>T
MANE Select: NM_001197293 · reported on NM_001939
dbSNP: rs1922555348
Type: single nucleotide variant
Location: chrX:101237619 (GRCh38)
Structure: AlphaFold pLDDT 90.49 · 15 PDB
Residue 94: an α-helix

Full DRP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

DRP2 p.Arg94Cys Uncertain significance ★ ⚠ same residue
DRP2 p.Arg94His Uncertain significance ★ ⚠ same residue
DRP2 p.Glu432Ter Pathogenic ★★ same type
DPYSL2 p.Asn492Ser Uncertain significance ★★ ⚠ same type
DPYSL2 p.Asp520Asn Uncertain significance ★★ ⚠ same type
DRP2 p.Ala205Val Uncertain significance ★★ ⚠ same type
DRP2 p.Ala643Thr Uncertain significance ★★ ⚠ same type
DRP2 p.Arg199His Uncertain significance ★★ ⚠ 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/drp2-p-arg94 (accessed [today's date]).

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