LBR p.Val308=
c.924C>T · rs1558653035 · VCV618194
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 | <0.2 | all four deltas below 0.2 · G>T here scores Δ0.32 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.53 | GERP -3.9 |
| Overall | ||
| CADD | 1.797 | 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
- LBR
- Protein
- p.Val308=
- Coding
- c.924C>T
- MANE Select
- NM_002296
- dbSNP
- rs1558653035
- Type
- single nucleotide variant
- Location
- chr1:225412614 (GRCh38)
- Gene constraint
- LOEUF 0.499 · pLI 0.97 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 76.89 · 1 PDB
- Residue 308
- a UniProt-annotated variant site (in skpha)
Similar variants
- LBR c.367-2A>C Pathogenic/Likely pathogenic ★★ same type
- LBR p.Arg512Gln Pathogenic/Likely pathogenic ★★ same type
- LBR p.Arg583Gln Pathogenic ★★ same type
- LBR p.Arg586His Pathogenic/Likely pathogenic ★★ same type
- LBR p.Asn547Asp Pathogenic/Likely pathogenic ★★ same type
- LBR p.Asn547Ser Pathogenic/Likely pathogenic ★★ same type
- LBR c.*1586G>A Uncertain significance ★★ same type
- LBR p.Ala109Gly 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/lbr-p-val308 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown