Is DNAH17 p.Glu1855fs (c.5562_5563del) pathogenic?

DNAH17 p.Glu1855fs (c.55625563del) is classified Likely pathogenic in DNAH17 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-01-31). Very rare (popmax 8.48e-05%, nfe); Associated with DNAH17-related disorder.

What condition is associated with DNAH17 p.Glu1855fs (c.5562_5563del)?

DNAH17 p.Glu1855fs (c.5562_5563del) is associated with DNAH17-related disorder (ClinVar).

How common is DNAH17 p.Glu1855fs (c.5562_5563del) in the general population?

DNAH17 p.Glu1855fs (c.5562_5563del) is very rare (popmax 8.48e-05%, nfe) (gnomAD).

DNAH17 p.Glu1855fs

c.5562_5563del · rs2511477180 · VCV2630533

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

very rare (popmax 8.48e-05%, nfe)

Conditions

DNAH17-related disorder

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 36 of 81
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.8	GERP 2.2, phastCons 1

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

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 8.48e-05% European (non-Finnish) · 1/1,179,428 alleles

Overall 6.85e-05% 1/1,460,260 alleles · very rare

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: DNAH17
Protein: p.Glu1855fs
Coding: c.5562_5563del
MANE Select: NM_173628
dbSNP: rs2511477180
Type: Deletion
Location: chr17:78500382 (GRCh38)
Gene constraint: LOEUF 0.859 · pLI <0.01 (gnomAD)
Residue 1855: a UniProt-annotated variant site (in spgf39); the 'aaa 1' region

Full DNAH17 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

DNAH17-related disorder

Similar variants

DNAH17 p.Ala3918fs Likely pathogenic ★ same condition
DNAH17 p.Lys3524fs Likely pathogenic same condition
DNAH17 p.Asn4131fs Likely pathogenic ★ same condition
DNAH17 c.6818+1G>A Likely pathogenic same condition
DNAH17 p.Ala2154Thr Uncertain significance ⚠ same condition
DNAH17 c.10735-5T>G Likely benign same condition
DNAH17 c.11212-7C>T Likely benign same condition
DNAH17 c.11334+4C>T Likely benign 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/dnah17-p-glu1855fs (accessed [today's date]).

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