USH1C p.Ile151=
c.453C>A · rs1048394303 · VCV1120772
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
Usher syndrome type 1C
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 8.6 | GERP 1.4, phastCons 1 |
| Overall | ||
| CADD | 13.36 | 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
- USH1C
- Protein
- p.Ile151=
- Coding
- c.453C>A
- MANE Select
- NM_153676
- dbSNP
- rs1048394303
- Type
- single nucleotide variant
- Location
- chr11:17527266 (GRCh38)
- Gene constraint
- LOEUF 0.876 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 79.51 · 11 PDB
- Residue 151
- the pdz 1 domain; an α-helix
Similar variants
- USH1C p.Ile151Ser Uncertain significance ★ ⚠ same residue
- USH1C c.1020-2A>C Likely pathogenic ★★ same condition
- USH1C c.104+1G>A Pathogenic/Likely pathogenic ★★ same condition
- USH1C c.104+5G>C Likely pathogenic ★★ same condition
- USH1C c.2227-1G>T Pathogenic/Likely pathogenic ★★ same condition
- USH1C c.2280+2T>C Likely pathogenic ★★ same condition
- USH1C c.248+1G>A Likely pathogenic ★★ same condition
- USH1C c.249-1G>A Likely pathogenic ★★ 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/ush1c-p-ile151 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown