NPHP3 p.Cys28Tyr
c.83_84delinsAT · VCV3588590
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
3
NPHP3-related Meckel-like syndrome
⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not looked up on this page · why |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 2.8 | GERP -0.47, phastCons 1 |
| Regional constraint | o/e 1.01 | unconstrained · MANE · 30 kb · p 0.87 · regional, not allelic |
Variant & gene context
- Gene
- NPHP3
- Protein
- p.Cys28Tyr
- Coding
- c.83_84delinsAT
- MANE Select
- NM_153240
- Type
- Indel
- Location
- chr3:132722272 (GRCh38)
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/nphp3-p-cys28tyr (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown