Is CRYGC p.Val132fs (c.394del) pathogenic?

CRYGC p.Val132fs (c.394del) is classified Pathogenic in CRYGC (ClinVar, Single submitter, 1 submitter; last evaluated 2022-02-01). Absent from gnomAD; Associated with cataract 2, multiple types.

What condition is associated with CRYGC p.Val132fs (c.394del)?

CRYGC p.Val132fs (c.394del) is associated with cataract 2, multiple types (ClinVar).

How common is CRYGC p.Val132fs (c.394del) in the general population?

CRYGC p.Val132fs (c.394del) is absent from gnomAD (gnomAD).

CRYGC p.Val132fs

c.394del · rs2105857937 · VCV1341367

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

cataract 2, multiple types

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 11	GERP 2.5, 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.Val132fs
Coding: c.394del
MANE Select: NM_020989
dbSNP: rs2105857937
Type: Deletion
Location: chr2:208128334 (GRCh38)
Gene constraint: LOEUF 0.941 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
Structure: AlphaFold pLDDT 96.66 · 1 PDB
Residue 132: a β-strand; the beta/gamma crystallin 'greek key' 4 domain

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

Disease context

cataract 2, multiple types — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

CRYGC p.Arg142fs Pathogenic ★ same condition
CRYGC p.Trp157Ter Pathogenic/Likely pathogenic ★★ same condition
CRYGC p.Glu18Lys Uncertain significance ★★ ⚠ same condition
CRYGC p.Arg60Ter Likely pathogenic ★ same condition
CRYGC p.Gln113Ter Likely pathogenic ★ same condition
CRYGC p.Arg153Trp Uncertain significance ★ ⚠ same condition
CRYGC p.Arg168Trp Conflicting classifications of pathogenicity ★ ⚠ same condition
CRYGC p.Asn50Ser 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/crygc-p-val132fs (accessed [today's date]).

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