Is DYNC1H1 p.Asp4623= (c.13869C>T) pathogenic?

DYNC1H1 p.Asp4623= (c.13869C>T) is classified Likely benign in DYNC1H1 (ClinVar, Single submitter, 1 submitter). Absent from gnomAD v4.1; Associated with Charcot-Marie-Tooth disease.

What condition is associated with DYNC1H1 p.Asp4623= (c.13869C>T)?

DYNC1H1 p.Asp4623= (c.13869C>T) is associated with Charcot-Marie-Tooth disease (ClinVar).

How common is DYNC1H1 p.Asp4623= (c.13869C>T) in the general population?

DYNC1H1 p.Asp4623= (c.13869C>T) is absent from gnomAD v4.1 (gnomAD).

DYNC1H1 p.Asp4623=

c.13869C>T · rs2048794268 · VCV917289

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

Charcot-Marie-Tooth disease

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 3.8	GERP -0.059, phastCons 1
Overall
CADD	9.717	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: DYNC1H1
Protein: p.Asp4623=
Coding: c.13869C>T
MANE Select: NM_001376
dbSNP: rs2048794268
Type: single nucleotide variant
Location: chr14:102050491 (GRCh38)
Gene constraint: LOEUF 0.117 · pLI 1.00 · ClinGen HI 0/3 (gnomAD)
Residue 4623: a β-strand

Full DYNC1H1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Charcot-Marie-Tooth disease — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

DYNC1H1 p.Asp4623Asn Conflicting classifications of pathogenicity ★ ⚠ same residue
DYNC1H1 p.His306Arg Pathogenic/Likely pathogenic ★★ ⚠ same condition
DYNC1H1 p.Glu4537Lys Uncertain significance ★★ same condition
DYNC1H1 p.Leu3553Val Uncertain significance ★★ same condition
DYNC1H1 p.Ser3111Gly Uncertain significance ★★ same condition
DYNC1H1 p.Val1422Ile Uncertain significance ★★ same condition
DYNC1H1 c.10414-13G>A Benign/Likely benign ★★ same condition
DYNC1H1 c.10626+12G>A 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/dync1h1-p-asp4623 (accessed [today's date]).

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