DCDC2 p.Arg232=
c.696G>A · rs758802517 · VCV593912
Conflicting classifications of pathogenicity
Conflicting submitters
Classification
Conflicting classifications of pathogenicity
ClinVar
Review
Conflicting submitters ★☆☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
very rare (popmax 0.00167%, amr)
Conditions
2
autosomal recessive nonsyndromic hearing loss 66
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 1.1 | GERP -1.4, phastCons 1 |
| Overall | ||
| CADD | 8.18 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00167%
Admixed American · 1/59,762 alleles
Overall
6.84e-05%
1/1,461,072 alleles · very rare
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
- DCDC2
- Protein
- p.Arg232=
- Coding
- c.696G>A
- MANE Select
- NM_016356
- dbSNP
- rs758802517
- Type
- single nucleotide variant
- Location
- chr6:24290940 (GRCh38)
- Gene constraint
- LOEUF 1.062 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 63.93 · 1 PDB
- Residue 232
- a UniProt-annotated variant site (in nsc)
Similar variants
- DCDC2 p.Arg232Ser Uncertain significance ★ ⚠ same residue
- DCDC2 c.294-2A>G Pathogenic ★★ same condition
- DCDC2 c.349-2A>G Pathogenic ★★ same condition
- DCDC2 c.705-2A>G Pathogenic ★★ same condition
- DCDC2 p.Leu297Ter Pathogenic ★★ same condition
- DCDC2 p.Met1Arg Pathogenic/Likely pathogenic ★★ ⚠ same condition
- DCDC2 p.Ser128Ter Pathogenic/Likely pathogenic ★★ same condition
- DCDC2 p.Ala384Gly 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/dcdc2-p-arg232 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown