TRIM37 p.Asp517=
c.1551T>C · rs2545577202 · VCV2698996
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 0.81 | GERP -4.2, phastCons 0.97 |
| Overall | ||
| CADD | 6.994 | 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
- TRIM37
- Protein
- p.Asp517=
- Coding
- c.1551T>C
- MANE Select
- NM_015294
- dbSNP
- rs2545577202
- Type
- single nucleotide variant
- Location
- chr17:59047799 (GRCh38)
- Gene constraint
- LOEUF 0.789 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 64.93 · 1 PDB
Similar variants
- TRIM37 c.1020-1G>C Likely pathogenic ★★ same type
- TRIM37 c.1948+2T>C Likely pathogenic ★★ same type
- TRIM37 c.1949-12A>G Likely pathogenic ★★ same type
- TRIM37 c.370-1G>A Pathogenic/Likely pathogenic ★★ same type
- TRIM37 c.493-2A>G Pathogenic ★★ same type
- TRIM37 c.617-1G>A Likely pathogenic ★★ same type
- TRIM37 p.Arg14Ter Likely pathogenic ★★ same type
- TRIM37 p.Arg361Ter Pathogenic/Likely 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/trim37-p-asp517 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown