DNAH7 p.Asp213Gly
c.638A>G · VCV3272920
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
AlphaMissense
likely pathogenic
0.8221 · ACMG-weighted
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| AlphaMissense | 0.8221 | likely pathogenic |
|---|---|---|
| REVEL | 0.442 | indeterminate |
| Splicing | ||
| SpliceAI | Δ0.25 | donor loss, 13 bp away · masked 0 · deltas |
| Constraint at this position | ||
| Conservation | phyloP 7.9 | GERP 1.9, phastCons 1 |
| Regional constraint | o/e 1.02 | unconstrained · MANE · 331 kb · p 0.14 · regional, not allelic |
| Overall | ||
| CADD | 25.4 | PHRED · no single calibrated threshold — expert panels disagree |
AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.
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
- DNAH7
- Protein
- p.Asp213Gly
- Coding
- c.638A>G
- MANE Select
- NM_018897
- Type
- single nucleotide variant
- Location
- chr2:196026789 (GRCh38)
- Gene constraint
- LOEUF 0.961 · pLI <0.01 (gnomAD)
- Residue 213
- the 'stem' region
Similar variants
- DNAH7 p.Arg1884Gln Uncertain significance ★★ ⚠ same type
- DNAH7 p.Arg3272Gln Uncertain significance ★★ ⚠ same type
- DNAH7 p.Asn2116Ser Uncertain significance ★★ ⚠ same type
- DNAH7 p.Asp1219Gly Uncertain significance ★★ ⚠ same type
- DNAH7 p.Asp1787Gly Uncertain significance ★★ same type
- DNAH7 p.Asp2867Tyr Uncertain significance ★★ ⚠ same type
- DNAH7 p.Ile1203Met Uncertain significance ★★ ⚠ same type
- DNAH7 p.Leu1715Met Uncertain significance ★★ ⚠ 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/dnah7-p-asp213gly (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown