Is DCT p.Cys61Trp (c.183C>G) pathogenic?

DCT p.Cys61Trp (c.183C>G) is classified Pathogenic/Likely pathogenic in DCT (ClinVar, No assertion criteria, 2 submitters; last evaluated 2021-04-20). AlphaMissense: likely pathogenic (0.9229); Absent from gnomAD v4.1; Associated with oculocutaneous albinism type 8.

What condition is associated with DCT p.Cys61Trp (c.183C>G)?

DCT p.Cys61Trp (c.183C>G) is associated with oculocutaneous albinism type 8, albinism (ClinVar).

How common is DCT p.Cys61Trp (c.183C>G) in the general population?

DCT p.Cys61Trp (c.183C>G) is absent from gnomAD v4.1 (gnomAD).

How is Oculocutaneous albinism type 8 inherited?

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

What do computational predictors say about DCT p.Cys61Trp (c.183C>G)?

AlphaMissense predicts likely pathogenic (score 0.9229) — an in-silico prediction, not a clinical call.

DCT p.Cys61Trp

c.183C>G · rs1885297366 · VCV929864

Pathogenic/Likely pathogenic No assertion criteria

Classification

Pathogenic/Likely pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 2 submitters

AlphaMissense

likely pathogenic

0.9229 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

3/3 damaging

AlphaMissense, REVEL, SaProt

Conditions

oculocutaneous albinism type 8

Computational evidence

Protein change
AlphaMissense	0.9229	likely pathogenic ✓ concordant with ClinVar · top 9% in DCT
REVEL	0.756	pathogenic-leaning
SaProt	LLR -14.15	damaging
⇒ AlphaMissense, REVEL and SaProt all call this damaging.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 0.64	GERP -2.2, phastCons 0.042
Regional constraint	o/e 1.05	unconstrained · MANE · 39 kb · p 0.21 · regional, not allelic
Overall
CADD	22.6	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: DCT
Protein: p.Cys61Trp
Coding: c.183C>G
MANE Select: NM_001922
dbSNP: rs1885297366
Type: single nucleotide variant
Location: chr13:94479073 (GRCh38)
Gene constraint: LOEUF 1.101 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 89.33 · 1 PDB
Residue 61: a UniProt-annotated variant site (in oca8)

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

Disease context

oculocutaneous albinism type 8 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: albinism

For Oculocutaneous albinism type 8 (Orphanet):

Inheritance: Autosomal recessive
Onset: Childhood
Prevalence: <1 / 1 000 000 (Worldwide)

Similar variants

DCT p.Arg233Ter Pathogenic/Likely pathogenic ★★ same condition
DCT p.Arg326Ter Pathogenic ★ same condition
DCT p.Trp71Ter Pathogenic ★ same condition
DCT p.Gly213Glu Uncertain significance ★ ⚠ same condition
DCT p.Ser34Arg Uncertain significance ★ ⚠ same condition
DCT p.Val285Leu Likely benign ★ ⚠ same condition
DCT p.Cys40Ser Pathogenic/Likely pathogenic same condition
DCT p.Gly59Val 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/dct-p-cys61trp (accessed [today's date]).

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