DYNC1H1 p.Ser618=
c.1854T>C · rs2503694655 · VCV3029228
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
DYNC1H1-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -2 | GERP -4.8 |
| Overall | ||
| CADD | 5.822 | 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.Ser618=
- Coding
- c.1854T>C
- MANE Select
- NM_001376
- dbSNP
- rs2503694655
- Type
- single nucleotide variant
- Location
- chr14:101986079 (GRCh38)
- Gene constraint
- LOEUF 0.117 · pLI 1.00 · ClinGen HI 0/3 (gnomAD)
- Residue 618
- an α-helix; the 'stem' region; the 'interaction with dync1i2' region
Similar variants
- DYNC1H1 p.Ser618Pro Uncertain significance ★ ⚠ same residue
- DYNC1H1 c.4396-1G>C Likely pathogenic ★★ same condition
- DYNC1H1 p.Ala4519Val Likely pathogenic ★★ same condition
- DYNC1H1 p.Arg2332Cys Pathogenic/Likely pathogenic ★★ same condition
- DYNC1H1 p.Arg598Cys Pathogenic/Likely pathogenic ★★ same condition
- DYNC1H1 p.Asp338Gly Pathogenic/Likely pathogenic ★★ same condition
- DYNC1H1 p.Val612Met Pathogenic ★★ same condition
- DYNC1H1 p.Ala2651Thr Uncertain significance ★★ ⚠ 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-ser618 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown