Is GALT p.Pro145fs (c.434_435del) pathogenic?

GALT p.Pro145fs (c.434435del) is classified Likely pathogenic in GALT (ClinVar, Multiple submitters, 2 submitters; last evaluated 2025-04-27). No gnomAD frequency available for this variant; Associated with galactosemia.

What condition is associated with GALT p.Pro145fs (c.434_435del)?

GALT p.Pro145fs (c.434_435del) is associated with galactosemia (ClinVar).

How common is GALT p.Pro145fs (c.434_435del) in the general population?

GALT p.Pro145fs (c.434_435del) is no gnomAD frequency available for this variant (gnomAD).

GALT p.Pro145fs

c.434_435del · rs1821147877 · VCV2683621

Likely pathogenic Multiple submitters

Classification

Likely pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

galactosemia

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 5 of 11
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 1.1	GERP 1.6, phastCons 0.51

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: GALT
Protein: p.Pro145fs
Coding: c.434_435del
MANE Select: NM_000155
dbSNP: rs1821147877
Type: Deletion
Location: chr9:34647888 (GRCh38)
Gene constraint: LOEUF 0.935 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 92.08 · 2 PDB
Residue 145: an α-helix

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

Disease context

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

Similar variants

GALT p.Arg272fs Pathogenic/Likely pathogenic ★★ same condition
GALT p.Arg67fs Pathogenic ★★ same condition
GALT p.Asn97del Pathogenic/Likely pathogenic ★★ same condition
GALT p.Asp7fs Pathogenic ★★ same condition
GALT p.Gln200fs Pathogenic/Likely pathogenic ★★ same condition
GALT p.His184fs Pathogenic/Likely pathogenic ★★ same condition
GALT p.His186fs Likely pathogenic ★★ same condition
GALT p.Leu217_Leu218insTer 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/galt-p-pro145fs (accessed [today's date]).

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