Is DNAL1 p.Phe147fs (c.438_439dup) pathogenic?

DNAL1 p.Phe147fs (c.438439dup) is classified Likely pathogenic in DNAL1 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-03-21). Associated with primary ciliary dyskinesia 16.

What condition is associated with DNAL1 p.Phe147fs (c.438_439dup)?

DNAL1 p.Phe147fs (c.438_439dup) is associated with primary ciliary dyskinesia 16 (ClinVar).

How is Primary ciliary dyskinesia inherited?

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

DNAL1 p.Phe147fs

c.438_439dup · VCV3576683

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

primary ciliary dyskinesia 16

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 7 of 8
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 5.8	GERP 0.45, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Variant & gene context

Gene: DNAL1
Protein: p.Phe147fs
Coding: c.438_439dup
MANE Select: NM_031427
Type: Microsatellite
Location: chr14:73689418 (GRCh38)
Gene constraint: LOEUF 1.47 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 94.81 · 1 PDB

Full DNAL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

primary ciliary dyskinesia 16 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Primary ciliary dyskinesia (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive, X-linked recessive
Onset: Neonatal
Prevalence: 1-5 / 10 000 (Pakistan)

Similar variants

DNAL1 p.Glu97del Uncertain significance ★ same condition
DNAL1 p.Val170fs Uncertain significance ★ same condition
DNAL1 c.209-12_209-8del Likely benign ★ same condition
DNAL1 c.264+13TTA[2] Likely benign ★ same condition
DNAL1 c.264+14_264+17del Likely benign ★ same condition
DNAL1 c.264+25_264+29del Likely benign ★ same condition
DNAL1 c.264+8_264+10del Likely benign ★ same condition
DNAL1 p.Asn150Ser 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/dnal1-p-phe147fs (accessed [today's date]).

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