Is DHDDS p.Trp171fs (c.510dup) pathogenic?

DHDDS p.Trp171fs (c.510dup) is classified Pathogenic in DHDDS (ClinVar, Single submitter, 1 submitter; last evaluated 2021-08-12). Absent from gnomAD; Associated with retinitis pigmentosa 59.

What condition is associated with DHDDS p.Trp171fs (c.510dup)?

DHDDS p.Trp171fs (c.510dup) is associated with retinitis pigmentosa 59 (ClinVar).

How common is DHDDS p.Trp171fs (c.510dup) in the general population?

DHDDS p.Trp171fs (c.510dup) is absent from gnomAD (gnomAD).

DHDDS p.Trp171fs

c.510dup · rs2124433466 · VCV1415429

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

retinitis pigmentosa 59

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function in a LoF-intolerant gene
NMD	predicted	premature termination codon in exon 6 of 9
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 9.9	GERP 1.9, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: DHDDS
Protein: p.Trp171fs
Coding: c.510dup
MANE Select: NM_205861
dbSNP: rs2124433466
Type: Duplication
Location: chr1:26447626 (GRCh38)
Gene constraint: LOEUF 0.536 · pLI 0.91 (gnomAD)
Structure: AlphaFold pLDDT 95.01 · 9 PDB
Residue 171: a UniProt-annotated variant site (in rp59; in a patient with congenital disorder of glycosylation); an α-helix

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

Disease context

retinitis pigmentosa 59 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

DHDDS p.Trp171Ter Pathogenic/Likely pathogenic ★★ same residue
DHDDS p.Trp171Cys Uncertain significance ★ ⚠ same residue
DHDDS p.Trp171Leu Uncertain significance ★ ⚠ same residue
DHDDS p.Val173fs Pathogenic/Likely pathogenic ★★ same condition
DHDDS p.Pro128fs Pathogenic ★ same condition
DHDDS c.180+6dup Likely benign ★ same condition
DHDDS c.658-11_658-9dup Likely benign ★ same condition
DHDDS c.766-6dup Likely benign ★ 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/dhdds-p-trp171fs (accessed [today's date]).

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