Is DNAH1 p.Arg981fs (c.2921_2939dup) pathogenic?

DNAH1 p.Arg981fs (c.29212939dup) is classified Pathogenic in DNAH1 (ClinVar, Single submitter, 1 submitter; last evaluated 2020-10-05). Absent from gnomAD; Associated with spermatogenic failure 18.

What condition is associated with DNAH1 p.Arg981fs (c.2921_2939dup)?

DNAH1 p.Arg981fs (c.2921_2939dup) is associated with spermatogenic failure 18, ciliary dyskinesia, primary, 37 (ClinVar).

How common is DNAH1 p.Arg981fs (c.2921_2939dup) in the general population?

DNAH1 p.Arg981fs (c.2921_2939dup) is absent from gnomAD (gnomAD).

DNAH1 p.Arg981fs

c.2921_2939dup · rs2153224037 · VCV1068985

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

spermatogenic failure 18

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 18 of 78
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 9.3	GERP 1.9, phastCons 1

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: DNAH1
Protein: p.Arg981fs
Coding: c.2921_2939dup
MANE Select: NM_015512
dbSNP: rs2153224037
Type: Duplication
Location: chr3:52352598 (GRCh38)
Gene constraint: LOEUF 0.759 · pLI <0.01 (gnomAD)
Residue 981: the 'stem' region; a UniProt-annotated variant site (in spgf18)

Full DNAH1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

spermatogenic failure 18 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: ciliary dyskinesia, primary, 37

Similar variants

DNAH1 p.Arg981His Uncertain significance ★ ⚠ same residue
DNAH1 p.Arg981= Likely benign ★ same residue
DNAH1 p.Arg2359fs Pathogenic/Likely pathogenic ★★ same condition
DNAH1 c.4571+16dup Benign/Likely benign ★★ same condition
DNAH1 p.Asp1593fs Pathogenic ★ same condition
DNAH1 p.Gly1840fs Pathogenic ★ same condition
DNAH1 p.Lys1062fs Pathogenic ★ same condition
DNAH1 p.Lys2805fs 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/dnah1-p-arg981fs (accessed [today's date]).

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