SGCD p.Lys138fs
c.414del · VCV3384091
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
muscular dystrophy
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 6 of 9 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.65 | GERP -1.5, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- SGCD
- Protein
- p.Lys138fs
- Coding
- c.414del
- MANE Select
- NM_000337
- Type
- Deletion
- Location
- chr5:156594958 (GRCh38)
- Gene constraint
- LOEUF 0.88 · pLI 0.05 (gnomAD)
- Structure
- AlphaFold pLDDT 81.43
Similar variants
- SGCD p.Lys138Arg Uncertain significance ★ ⚠ same residue
- SGCD p.Lys138Asn Uncertain significance ★ ⚠ same residue
- SGCD p.Lys138Ile Uncertain significance ★ ⚠ same residue
- SGCD p.Lys138= Likely benign ★ same residue
- SGCD c.-44+11_-44+13del Likely benign ★★★ same type
- SGCD p.Ala131fs Pathogenic/Likely pathogenic ★★ same type
- SGCD p.Thr119fs Pathogenic ★★ same type
- SGCD p.Thr220fs Pathogenic ★★ same type
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/sgcd-p-lys138fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown