Myopathy, congenital, with structured cores and z-line abnormalities: genes and variants
Myopathy, congenital, with structured cores and z-line abnormalities is linked to 1 analyzed protein (ACTN2). 1 DNA variants are known to cause it; 57 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Myopathy, congenital, with structured cores and z-line abnormalities
ACTN2: Alpha-actinin-2
It crosslinks actin at the sarcomeric Z-disc and organizes mechanical and signaling complexes in cardiac and skeletal muscle. Pathogenic variants can cause hypertrophic, dilated, or other inherited cardiomyopathies and occasional skeletal-muscle phenotypes.
1 disease-causing and 57 uncertain variants in ACTN2 are linked to Myopathy, congenital, with structured cores and z-line abnormalities.
Known disease-causing variants in Myopathy, congenital, with structured cores and z-line abnormalities
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ACTN2 L727R | 727 | Spectrin 4 | Disease-causing (★★) |
Diseases related to Myopathy, congenital, with structured cores and z-line abnormalities
- Primary dilated cardiomyopathy, also linked to ACTN2
- Primary familial hypertrophic cardiomyopathy, also linked to ACTN2
- Cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction, also linked to ACTN2
- Dilated cardiomyopathy 1AA, also linked to ACTN2
- Myopathy, distal, 6, adult-onset, autosomal dominant, also linked to ACTN2
Frequently asked questions
Which genes are linked to Myopathy, congenital, with structured cores and z-line abnormalities?
In CATVariant, Myopathy, congenital, with structured cores and z-line abnormalities is linked to 1 analyzed protein: ACTN2 (Alpha-actinin-2).
How many genetic variants are linked to Myopathy, congenital, with structured cores and z-line abnormalities?
61 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 57 are of uncertain significance or have conflicting reports.
Which uncertain variants in Myopathy, congenital, with structured cores and z-line abnormalities look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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