Is DCT p.Gly59Val (c.176G>T) pathogenic?

DCT p.Gly59Val (c.176G>T) is classified Pathogenic in DCT (ClinVar, No assertion criteria, 1 submitter; last evaluated 2021-09-16). AlphaMissense: likely pathogenic (0.8888); Absent from gnomAD v4.1; Associated with oculocutaneous albinism type 8.

What condition is associated with DCT p.Gly59Val (c.176G>T)?

DCT p.Gly59Val (c.176G>T) is associated with oculocutaneous albinism type 8 (ClinVar).

How common is DCT p.Gly59Val (c.176G>T) in the general population?

DCT p.Gly59Val (c.176G>T) 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.Gly59Val (c.176G>T)?

AlphaMissense predicts likely pathogenic (score 0.8888) — an in-silico prediction, not a clinical call.

DCT p.Gly59Val

c.176G>T · rs1885298359 · VCV1268230

Pathogenic No assertion criteria

Classification

Pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely pathogenic

0.8888 · 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	0.8888	likely pathogenic ✓ concordant with ClinVar
REVEL	0.89	moderately pathogenic-leaning
SaProt	LLR -17.78	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 7.7	GERP 1.7, phastCons 1
Regional constraint	o/e 1.05	unconstrained · MANE · 39 kb · p 0.21 · regional, not allelic
Overall
CADD	26.1	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.Gly59Val
Coding: c.176G>T
MANE Select: NM_001922
dbSNP: rs1885298359
Type: single nucleotide variant
Location: chr13:94479080 (GRCh38)
Gene constraint: LOEUF 1.101 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 89.33 · 1 PDB

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

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.Cys61Trp 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/dct-p-gly59val (accessed [today's date]).

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