Is CRYGC p.Pro110fs (c.328_329delinsT) pathogenic?

CRYGC p.Pro110fs (c.328329delinsT) is classified Pathogenic in CRYGC (ClinVar, No assertion criteria, 1 submitter; last evaluated 2015-01-09). Absent from gnomAD; Associated with Developmental cataract.

What condition is associated with CRYGC p.Pro110fs (c.328_329delinsT)?

CRYGC p.Pro110fs (c.328_329delinsT) is associated with Developmental cataract (ClinVar).

How common is CRYGC p.Pro110fs (c.328_329delinsT) in the general population?

CRYGC p.Pro110fs (c.328_329delinsT) is absent from gnomAD (gnomAD).

CRYGC p.Pro110fs

c.328_329delinsT · rs864309689 · VCV217337

Pathogenic No assertion criteria

Classification

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

Developmental cataract

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	escapes	premature termination codon in the last exon (3 of 3) — the truncated protein is likely expressed. PVS1 input, not an applied code
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 4.9	GERP 1.6, 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: CRYGC
Protein: p.Pro110fs
Coding: c.328_329delinsT
MANE Select: NM_020989
dbSNP: rs864309689
Type: Indel
Location: chr2:208128399 (GRCh38)
Gene constraint: LOEUF 0.941 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
Structure: AlphaFold pLDDT 96.66 · 1 PDB
Residue 110: the beta/gamma crystallin 'greek key' 3 domain

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

Disease context

Developmental cataract — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

CRYGC p.Ser166Phe Pathogenic same condition
CRYGC p.Asn138_Tyr139delinsArgArgArgGlyAsnThrLeuValAspGlyGlnTyrLeuValAspGlyAlaIleProSerTer Likely pathogenic ★ same type
CRYGC p.Trp157fs Pathogenic ★ same type

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/crygc-p-pro110fs (accessed [today's date]).

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