ECM1 p.Leu210Pro
c.629_630delinsCT · rs2526408169 · VCV3064523
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Conditions
1
lipoid proteinosis
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 7.8 | GERP 1.7, phastCons 1 |
| Regional constraint | o/e 0.94 | unconstrained · MANE · 5,254 bp · p 0.14 · regional, not allelic |
Population frequency
dbSNP / gnomAD
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- ECM1
- Protein
- p.Leu210Pro
- Coding
- c.629_630delinsCT
- MANE Select
- NM_004425
- dbSNP
- rs2526408169
- Type
- Indel
- Location
- chr1:150511119 (GRCh38)
- Gene constraint
- LOEUF 1.051 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 69.05
- Residue 210
- the '2 x approximate repeats' region
Similar variants
- ECM1 p.Cys181fs Likely pathogenic ★ same condition
- ECM1 p.Arg254Ter Pathogenic ★★ same condition
- ECM1 p.Arg416Ter Pathogenic/Likely pathogenic ★★ same condition
- ECM1 p.Arg53Ter Pathogenic ★★ same condition
- ECM1 p.Cys269Tyr Pathogenic/Likely pathogenic ★★ same condition
- ECM1 p.Pro78fs Pathogenic/Likely pathogenic ★★ same condition
- ECM1 c.122-3T>G Uncertain significance ★★ same condition
- ECM1 p.Pro169Ala 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/ecm1-p-leu210pro (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown