ADAMTS10 p.Arg592=
c.1774C>A · rs975748024 · VCV2745891
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 4.4 | GERP -0.55, phastCons 1 |
| Overall | ||
| CADD | 11.52 | 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
- ADAMTS10
- Protein
- p.Arg592=
- Coding
- c.1774C>A
- MANE Select
- NM_030957
- dbSNP
- rs975748024
- Type
- single nucleotide variant
- Location
- chr19:8591823 (GRCh38)
- Gene constraint
- LOEUF 0.467 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 73.88
- Residue 592
- a disulfide bond; the tsp type-1 1 domain
Similar variants
- ADAMTS10 p.Arg592Gln Uncertain significance ★ ⚠ same residue
- ADAMTS10 c.810+1G>A Likely pathogenic ★★ same type
- ADAMTS10 p.Arg237Ter Pathogenic ★★ same type
- ADAMTS10 c.1337+3G>T Uncertain significance ★★ same type
- ADAMTS10 c.1587+6C>A Uncertain significance ★★ same type
- ADAMTS10 c.894+5G>A Uncertain significance ★★ same type
- ADAMTS10 c.-99-3C>T Uncertain significance ★★ same type
- ADAMTS10 p.Ala13Thr 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/adamts10-p-arg592 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown