ITGA7 p.Val306=
c.918G>A · VCV4769663
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
congenital muscular dystrophy due to integrin alpha-7 deficiency
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.33 | GERP -3.6, phastCons 0.99 |
| Overall | ||
| CADD | 5.12 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- ITGA7
- Protein
- p.Val306=
- Coding
- c.918G>A
- MANE Select
- NM_002206
- Type
- single nucleotide variant
- Location
- chr12:55698790 (GRCh38)
- Gene constraint
- LOEUF 0.738 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.14
Disease context
congenital muscular dystrophy due to integrin alpha-7 deficiency — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Congenital muscular dystrophy with integrin alpha-7 deficiency (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Infancy, Neonatal
- Prevalence
- <1 / 1 000 000 (Europe)
Similar variants
- ITGA7 c.1887+2T>C Likely pathogenic ★★ same condition
- ITGA7 p.Arg143Ter Pathogenic/Likely pathogenic ★★ same condition
- ITGA7 p.Arg149Ter Pathogenic/Likely pathogenic ★★ same condition
- ITGA7 p.Arg569Ter Pathogenic/Likely pathogenic ★★ same condition
- ITGA7 p.Arg604Ter Pathogenic/Likely pathogenic ★★ same condition
- ITGA7 p.Arg798Ter Pathogenic/Likely pathogenic ★★ same condition
- ITGA7 p.Gln76Ter Pathogenic/Likely pathogenic ★★ same condition
- ITGA7 p.Gln83Ter Pathogenic/Likely 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/itga7-p-val306 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown