DYNC1H1 p.Val499=
c.1497C>T · VCV3375237
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 -5 | GERP -4.6 |
| Overall | ||
| CADD | 0.175 | 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.Val499=
- Coding
- c.1497C>T
- MANE Select
- NM_001376
- Type
- single nucleotide variant
- Location
- chr14:101985722 (GRCh38)
- Gene constraint
- LOEUF 0.117 · pLI 1.00 · ClinGen HI 0/3 (gnomAD)
- Residue 499
- the 'stem' region; the 'interaction with dync1i2' region
Similar variants
- DYNC1H1 p.Val499Asp Uncertain significance ★ same residue
- DYNC1H1 p.Val499Ala Likely benign ★ same residue
- DYNC1H1 c.4396-1G>C Likely pathogenic ★★ same type
- DYNC1H1 p.Ala4519Val Likely pathogenic ★★ same type
- DYNC1H1 p.Arg1567Gln Pathogenic/Likely pathogenic ★★ same type
- DYNC1H1 p.Arg1623Gln Pathogenic/Likely pathogenic ★★ same type
- DYNC1H1 p.Arg1623Trp Pathogenic ★★ same type
- DYNC1H1 p.Arg1962Cys Pathogenic ★★ same type
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-val499 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown