Is ODAD2 p.Val571= (c.1713G>A) pathogenic?

ODAD2 p.Val571= (c.1713G>A) is classified Likely benign in ODAD2 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-03-02). Ultra-rare (popmax 0.0178%, mid); Associated with primary ciliary dyskinesia 23.

What condition is associated with ODAD2 p.Val571= (c.1713G>A)?

ODAD2 p.Val571= (c.1713G>A) is associated with primary ciliary dyskinesia 23 (ClinVar).

How common is ODAD2 p.Val571= (c.1713G>A) in the general population?

ODAD2 p.Val571= (c.1713G>A) is ultra-rare (popmax 0.0178%, mid) (gnomAD).

How is Primary ciliary dyskinesia inherited?

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

ODAD2 p.Val571=

c.1713G>A · rs190201131 · VCV2710853

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

ultra-rare (popmax 0.0178%, mid)

Conditions

primary ciliary dyskinesia 23

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -11	GERP -3.2
Overall
CADD	0.15	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0178% Middle Eastern · 1/5,632 alleles

Filtering AF 0.00106% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000495%

Overall 0.000744% 12/1,613,364 alleles · ultra-rare exomes 9/1,461,132 · genomes 3/152,232 · joint denominator

Ancestry group	Frequency	1 in
Middle Easterngrpmax	0.0178%	5,632
African / African-American	0.004%	25,003
Remaining individualsnot grpmax-eligible	0.0032%	31,223
European (non-Finnish)	0.000508%	196,657

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: ODAD2
Protein: p.Val571=
Coding: c.1713G>A
MANE Select: NM_018076
dbSNP: rs190201131
Type: single nucleotide variant
Location: chr10:27944252 (GRCh38)
Gene constraint: LOEUF 0.977 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 80.63 · 1 PDB

Full ODAD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

primary ciliary dyskinesia 23 — 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

ODAD2 c.2097+1G>A Pathogenic/Likely pathogenic ★★ same condition
ODAD2 c.2097+1G>T Pathogenic/Likely pathogenic ★★ same condition
ODAD2 c.2495+1G>A Pathogenic ★★ same condition
ODAD2 c.2800-2A>G Pathogenic/Likely pathogenic ★★ same condition
ODAD2 c.383-1G>T Likely pathogenic ★★ same condition
ODAD2 c.576-2A>T Likely pathogenic ★★ same condition
ODAD2 p.Gln657Ter Pathogenic ★★ same condition
ODAD2 p.Glu335Ter 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/odad2-p-val571 (accessed [today's date]).

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