Is GALC p.Asp262fs (c.782_783dup) pathogenic?

GALC p.Asp262fs (c.782783dup) is classified Pathogenic in GALC (ClinVar, Single submitter, 1 submitter; last evaluated 2021-03-17). Absent from gnomAD; Associated with Krabbe disease.

What condition is associated with GALC p.Asp262fs (c.782_783dup)?

GALC p.Asp262fs (c.782_783dup) is associated with Krabbe disease (ClinVar).

How common is GALC p.Asp262fs (c.782_783dup) in the general population?

GALC p.Asp262fs (c.782_783dup) is absent from gnomAD (gnomAD).

How is Krabbe disease inherited?

Typically Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

GALC p.Asp262fs

c.782_783dup · rs2140001750 · VCV1385679

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

Krabbe disease

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 8 of 17
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 0.34	GERP -0.35

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: GALC
Protein: p.Asp262fs
Coding: c.782_783dup
MANE Select: NM_000153
dbSNP: rs2140001750
Type: Duplication
Location: chr14:87968459 (GRCh38)
Gene constraint: LOEUF 1.019 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 94.56

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

Disease context

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

For Krabbe disease (Orphanet):

Inheritance: Autosomal recessive
Onset: Adolescent, Adult, Childhood, Infancy, Neonatal
Prevalence: 1-9 / 1 000 000 (United States)

Similar variants

GALC p.Asp262= Likely benign ★ same residue
GALC p.Glu3fs Pathogenic ★★ same condition
GALC p.Gly362fs Pathogenic/Likely pathogenic ★★ same condition
GALC p.Leu98fs Pathogenic/Likely pathogenic ★★ same condition
GALC p.Pro318fs Pathogenic/Likely pathogenic ★★ same condition
GALC p.Pro571_Asp572insTer Pathogenic ★★ same condition
GALC p.Thr145fs Pathogenic/Likely pathogenic ★★ same condition
GALC p.Thr573fs 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/galc-p-asp262fs (accessed [today's date]).

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