USH2A p.Ser75fs
c.223dup · VCV4081857
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
USH2A-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 2 of 72 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.56 | GERP 1.6 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- USH2A
- Protein
- p.Ser75fs
- Coding
- c.223dup
- MANE Select
- NM_206933
- Type
- Duplication
- Location
- chr1:216422113 (GRCh38)
- Gene constraint
- LOEUF 0.855 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Similar variants
- USH2A p.Arg1946fs Pathogenic/Likely pathogenic ★★ same condition
- USH2A p.Arg205fs Pathogenic/Likely pathogenic ★★ same condition
- USH2A p.Asn443fs Pathogenic/Likely pathogenic ★★ same condition
- USH2A p.Gly614fs Pathogenic/Likely pathogenic ★★ same condition
- USH2A p.Ser1416fs Pathogenic/Likely pathogenic ★★ same condition
- USH2A p.Ser4157fs Pathogenic/Likely pathogenic ★★ same condition
- USH2A p.Thr1785fs Pathogenic ★★ same condition
- USH2A p.Val2715fs Pathogenic/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/ush2a-p-ser75fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown