PRPH2 p.Val312fs
c.935del · VCV4713950
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
PRPH2-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 | escapes | premature termination codon in the last exon (3 of 3) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.26 | GERP -1.7, phastCons 0.83 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- PRPH2
- Protein
- p.Val312fs
- Coding
- c.935del
- MANE Select
- NM_000322
- Type
- Deletion
- Location
- chr6:42698401 (GRCh38)
- Gene constraint
- LOEUF 0.773 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 87.56 · 1 PDB
Similar variants
- PRPH2 p.Val312Met Uncertain significance ★ same residue
- PRPH2 p.Asn136fs Pathogenic/Likely pathogenic ★★ same condition
- PRPH2 p.Asp50fs Pathogenic/Likely pathogenic ★★ same condition
- PRPH2 p.Asp87fs Pathogenic ★★ same condition
- PRPH2 p.Gln132fs Pathogenic ★★ same condition
- PRPH2 p.Gly38fs Pathogenic ★★ same condition
- PRPH2 p.Leu290fs Pathogenic ★★ same condition
- PRPH2 p.Leu307fs 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/prph2-p-val312fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown