Is CDHR1 p.Thr91fs (c.270dup) pathogenic?

CDHR1 p.Thr91fs (c.270dup) is classified Likely pathogenic in CDHR1 (ClinVar, No assertion criteria, 1 submitter). Absent from gnomAD; Associated with inherited retinal dystrophy.

What condition is associated with CDHR1 p.Thr91fs (c.270dup)?

CDHR1 p.Thr91fs (c.270dup) is associated with inherited retinal dystrophy (ClinVar).

How common is CDHR1 p.Thr91fs (c.270dup) in the general population?

CDHR1 p.Thr91fs (c.270dup) is absent from gnomAD (gnomAD).

CDHR1 p.Thr91fs

c.270dup · rs878853347 · VCV236440

Likely pathogenic No assertion criteria

Classification

Likely pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

inherited retinal dystrophy

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	predicted	premature termination codon in exon 3 of 17
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.9	GERP 4.8, 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: CDHR1
Protein: p.Thr91fs
Coding: c.270dup
MANE Select: NM_033100
dbSNP: rs878853347
Type: Duplication
Location: chr10:84196622 (GRCh38)
Gene constraint: LOEUF 1.004 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 78.79
Residue 91: the cadherin 1 domain

Full CDHR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

inherited retinal dystrophy — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

CDHR1 p.Thr91= Likely benign ★ same residue
CDHR1 p.Gly488fs Pathogenic ★★ same condition
CDHR1 p.Gly502fs Pathogenic ★★ same condition
CDHR1 p.Ile841fs Pathogenic/Likely pathogenic ★★ same condition
CDHR1 c.1554-3C>A Uncertain significance ★★ same condition
CDHR1 p.Asn296Thr Uncertain significance ★★ ⚠ same condition
CDHR1 p.Asp127Asn Uncertain significance ★★ ⚠ same condition
CDHR1 p.Glu201Lys 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/cdhr1-p-thr91fs (accessed [today's date]).

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