RYR1 p.Phe782del
c.2345_2347del · rs2514049669 · VCV2104513
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Conditions
1
RYR1-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 12 | GERP 2.3, phastCons 1 |
Population frequency
dbSNP / gnomAD
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- RYR1
- Protein
- p.Phe782del
- Coding
- c.2345_2347del
- MANE Select
- NM_000540
- dbSNP
- rs2514049669
- Type
- Deletion
- Location
- chr19:38459321 (GRCh38)
- Gene constraint
- LOEUF 0.644 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Residue 782
- the b30.2/spry 1 domain
Similar variants
- RYR1 c.6797-6_6798del Pathogenic ★★ same condition
- RYR1 p.Ala3774fs Pathogenic/Likely pathogenic ★★ same condition
- RYR1 p.Ala4348fs Pathogenic/Likely pathogenic ★★ same condition
- RYR1 p.Glu3584fs Pathogenic/Likely pathogenic ★★ same condition
- RYR1 p.Gly3328fs Pathogenic/Likely pathogenic ★★ same condition
- RYR1 p.Gly4037fs Pathogenic/Likely pathogenic ★★ same condition
- RYR1 p.Pro1327_Asp1328insTer Pathogenic ★★ same condition
- RYR1 p.Pro626_Gly627insTer 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/ryr1-p-phe782del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown