Cardiomyopathy, familial restrictive, 3: genes and variants

Genes linked to Cardiomyopathy, familial restrictive, 3

• TNNT2: Troponin T, cardiac muscle

  It anchors the cardiac troponin complex to tropomyosin and helps translate calcium-dependent conformational changes into controlled actin-myosin interaction. Pathogenic variants can cause hypertrophic, dilated, or restrictive cardiomyopathy and alter arrhythmic risk.

  16 disease-causing and 148 uncertain variants in TNNT2 are linked to Cardiomyopathy, familial restrictive, 3.

• TNNI3: Troponin I, cardiac muscle

  It restrains cardiac actin-myosin interaction at low calcium and shifts position within the troponin complex when calcium binds, allowing contraction. Pathogenic variants can alter thin-filament calcium sensitivity and cause hypertrophic, restrictive, or dilated cardiomyopathy.

  9 disease-causing and 8 uncertain variants in TNNI3 are linked to Cardiomyopathy, familial restrictive, 3.

• TNNC1: Troponin C, slow skeletal and cardiac muscles

  It binds calcium during each heartbeat and shifts the troponin complex to permit actin-myosin interaction and force generation in cardiac muscle. Pathogenic variants can alter calcium sensitivity and cause hypertrophic or dilated cardiomyopathy.

  0 disease-causing and 0 uncertain variants in TNNC1 are linked to Cardiomyopathy, familial restrictive, 3.

Where Cardiomyopathy, familial restrictive, 3 variants cluster

• TNNI3 Involved in binding TNC and actin (positions 129–149): 4 of 9 disease-causing changes, 4.4× more than its size predicts.

Known disease-causing variants in Cardiomyopathy, familial restrictive, 3

Same protein, different disease

• Hypertrophic cardiomyopathy is also caused by TNNT2 variants; they fall in the same places as the Cardiomyopathy, familial restrictive, 3 variants (20 disease-causing).
• Dilated cardiomyopathy is also caused by TNNT2 variants; they fall in the same places as the Cardiomyopathy, familial restrictive, 3 variants (18 disease-causing).
• Primary dilated cardiomyopathy is also caused by TNNT2 variants; they fall mostly in different places as the Cardiomyopathy, familial restrictive, 3 variants (7 disease-causing).
• Familial isolated dilated cardiomyopathy is also caused by TNNT2 variants; they fall mostly in different places as the Cardiomyopathy, familial restrictive, 3 variants (3 disease-causing).
• Hypertrophic cardiomyopathy is also caused by TNNI3 variants; they fall partly in the same places as the Cardiomyopathy, familial restrictive, 3 variants (24 disease-causing).
• Dilated cardiomyopathy 1FF is also caused by TNNI3 variants; they fall mostly in different places as the Cardiomyopathy, familial restrictive, 3 variants (7 disease-causing).

Diseases related to Cardiomyopathy, familial restrictive, 3

• Hypertrophic cardiomyopathy, also linked to TNNC1, TNNI3 and TNNT2
• Dilated cardiomyopathy, also linked to TNNC1, TNNI3 and TNNT2
• Familial isolated dilated cardiomyopathy, also linked to TNNC1, TNNI3 and TNNT2
• Primary dilated cardiomyopathy, also linked to TNNI3 and TNNT2
• Restrictive cardiomyopathy, also linked to TNNC1 and TNNI3
• Dilated cardiomyopathy 1FF, also linked to TNNC1 and TNNI3
• Primary familial hypertrophic cardiomyopathy, also linked to TNNI3
• Left ventricular noncompaction, also linked to TNNT2
• Primary familial dilated cardiomyopathy, also linked to TNNT2

Frequently asked questions

Which genes are linked to Cardiomyopathy, familial restrictive, 3?

In CATVariant, Cardiomyopathy, familial restrictive, 3 is linked to 3 analyzed proteins: TNNT2 (Troponin T, cardiac muscle), TNNI3 (Troponin I, cardiac muscle) and TNNC1 (Troponin C, slow skeletal and cardiac muscles).

How many genetic variants are linked to Cardiomyopathy, familial restrictive, 3?

219 variants: 25 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 156 are of uncertain significance or have conflicting reports.

Which uncertain variants in Cardiomyopathy, familial restrictive, 3 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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