Is DYNC2H1 p.Phe3571= (c.10713C>T) pathogenic?

DYNC2H1 p.Phe3571= (c.10713C>T) is classified Conflicting classifications of pathogenicity in DYNC2H1 (ClinVar, Conflicting submitters, 2 submitters; last evaluated 2026-01-14). Ultra-rare (popmax 0.012%, eas); Associated with Jeune syndrome.

What condition is associated with DYNC2H1 p.Phe3571= (c.10713C>T)?

DYNC2H1 p.Phe3571= (c.10713C>T) is associated with Jeune syndrome (ClinVar).

How common is DYNC2H1 p.Phe3571= (c.10713C>T) in the general population?

DYNC2H1 p.Phe3571= (c.10713C>T) is ultra-rare (popmax 0.012%, eas) (gnomAD).

DYNC2H1 p.Phe3571=

c.10713C>T · rs886043866 · VCV288330

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

ultra-rare (popmax 0.012%, eas)

Conditions

Jeune syndrome

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 -4	GERP -1.4
Overall
CADD	9.579	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.012% East Asian · 5/41,812 alleles

Filtering AF 0.0047% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00303%

Overall 0.00129% 20/1,555,212 alleles · ultra-rare exomes 15/1,403,212 · genomes 5/152,000 · joint denominator

Ancestry group	Frequency	1 in
East Asiangrpmax	0.012%	8,362
African / African-American	0.00545%	18,349
South Asian	0.00237%	42,193
European (non-Finnish)	0.000784%	127,576

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: DYNC2H1
Protein: p.Phe3571=
Coding: c.10713C>T
MANE Select: NM_001377
dbSNP: rs886043866
Type: single nucleotide variant
Location: chr11:103280365 (GRCh38)
Gene constraint: LOEUF 0.859 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Residue 3571: an α-helix

Full DYNC2H1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Jeune syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

DYNC2H1 p.Phe3571Val Uncertain significance ★ ⚠ same residue
DYNC2H1 c.10042+2T>G Pathogenic/Likely pathogenic ★★ same condition
DYNC2H1 c.10462-2A>G Likely pathogenic ★★ same condition
DYNC2H1 c.10606-14A>G Pathogenic/Likely pathogenic ★★ same condition
DYNC2H1 c.10695+1G>A Likely pathogenic ★★ same condition
DYNC2H1 c.10813-2A>G Likely pathogenic ★★ same condition
DYNC2H1 c.11493+2T>A Likely pathogenic ★★ same condition
DYNC2H1 c.11650-1G>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/dync2h1-p-phe3571 (accessed [today's date]).

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