DYM p.Arg537fs
c.1609_1619del · VCV3348362
Likely pathogenic
No assertion criteria
Classification
Likely pathogenic
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
DYM-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 14 of 18 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 2.3 | GERP -2.6, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- DYM
- Protein
- p.Arg537fs
- Coding
- c.1609_1619del
- MANE Select
- NM_001353214
- Type
- Deletion
- Location
- chr18:49209557 (GRCh38)
- Gene constraint
- LOEUF 1.081 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 87.91
Disease context
DYM-related disorder
Similar variants
- DYM p.Leu618_Phe619insTer Likely pathogenic ★ same condition
- DYM c.947-2A>G Pathogenic/Likely pathogenic ★★ same condition
- DYM p.Arg588Ter Pathogenic ★★ same condition
- DYM p.Glu87Lys Pathogenic ★★ same condition
- DYM p.Arg369His Uncertain significance ★★ ⚠ same condition
- DYM p.Arg455Ter Pathogenic ★ same condition
- DYM p.Ala307Val Uncertain significance ⚠ same condition
- DYM p.Asn14Lys Uncertain significance ⚠ 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/dym-p-arg537fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown