Is ALPL c.183dupG pathogenic?

ALPL c.183dupG is classified Pathogenic in ALPL (ClinVar, Single submitter, 2 submitters; last evaluated 2020-09-18). No gnomAD frequency available for this variant; Associated with infantile hypophosphatasia.

What condition is associated with ALPL c.183dupG?

ALPL c.183dupG is associated with infantile hypophosphatasia (ClinVar).

How common is ALPL c.183dupG in the general population?

ALPL c.183dupG is no gnomAD frequency available for this variant (gnomAD).

How is Hypophosphatasia inherited?

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

ALPL c.183dupG

rs1553411890 · VCV555382

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 2 submitters

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

infantile hypophosphatasia

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 11	GERP 1.8, phastCons 1

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: ALPL
Coding: c.183dupG
MANE Select: NM_000478
dbSNP: rs1553411890
Type: Duplication
Location: chr1:21561095 (GRCh38)
Gene constraint: LOEUF 0.987 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 93.74 · 5 PDB

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

Disease context

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

For Hypophosphatasia (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive
Onset: All ages

Similar variants

ALPL p.Arg391fs Pathogenic/Likely pathogenic ★★ same condition
ALPL p.Gly222fs Pathogenic/Likely pathogenic ★★ same condition
ALPL p.His340fs Pathogenic ★★ same condition
ALPL p.Leu77fs Pathogenic ★ same condition
ALPL p.Lys229fs Likely pathogenic ★ same condition
ALPL c.62-1G>C Pathogenic/Likely pathogenic ★★ same condition
ALPL c.648+1G>A Pathogenic ★★ same condition
ALPL c.649-1G>A 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/alpl-c-183dupg (accessed [today's date]).

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