TNNC1 — 380 ClinVar variants

All ClinVar germline TNNC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 156 flagged for review →

5 Pathogenic · 6 Likely pathogenic · 27 Conflicting · 6 Benign · 7 Benign/Likely benign · 123 Likely benign · 206 Uncertain significance

Full TNNC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 156

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 5

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 95

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 54

The independent predictors disagree with each other — read with care.

All TNNC1 variants

Pathogenic 5

Likely pathogenic 6

Conflicting classifications of pathogenicity 27

  • c.203-10C>G Single submitter dilated cardiomyopathy 1Z
  • c.24+6G>A Single submitter dilated cardiomyopathy 1Z
  • c.318-9T>A Single submitter hypertrophic cardiomyopathy 13
  • c.454+6C>T Single submitter hypertrophic cardiomyopathy 13
  • c.454+7G>A Single submitter cardiomyopathy
  • c.455-6C>G Single submitter dilated cardiomyopathy 1Z
  • c.55+9C>A Single submitter dilated cardiomyopathy 1Z
  • c.56-8G>A Single submitter dilated cardiomyopathy 1Z
  • c.-6G>A Single submitter
  • c.-7C>T Single submitter
  • c.*127C>T Single submitter dilated cardiomyopathy 1Z
  • p.Ala8Val Single submitter Cardiovascular phenotype ⚠
  • p.Asn144Asp Single submitter TNNC1-related disorder ⚠
  • p.Asp149Asn Single submitter Cardiovascular phenotype
  • p.Asp65= Single submitter dilated cardiomyopathy 1Z
  • p.Asp88Asn Single submitter dilated cardiomyopathy 1Z ⚠
  • p.Cys84Tyr Single submitter TNNC1-related disorder ⚠
  • p.Glu134Lys Single submitter TNNC1-related disorder ⚠
  • p.Gly70= Single submitter Cardiovascular phenotype
  • p.Ile36= Single submitter Cardiovascular phenotype
  • p.Met45Ile Single submitter Cardiovascular phenotype ⚠
  • p.Phe27= Single submitter Cardiovascular phenotype
  • p.Pro52Arg Single submitter Cardiovascular phenotype ⚠
  • p.Pro54His Single submitter
  • p.Thr129= Single submitter Cardiovascular phenotype
  • p.Tyr5Cys Single submitter hypertrophic cardiomyopathy 13
  • p.Val72= Single submitter hypertrophic cardiomyopathy 13

Benign 6

Benign/Likely benign 7

  • c.203-5C>T Multiple submitters Cardiovascular phenotype
  • c.317+8C>T Multiple submitters dilated cardiomyopathy 1Z
  • c.317+9G>A Multiple submitters hypertrophic cardiomyopathy 13
  • c.*83A>C Multiple submitters dilated cardiomyopathy 1Z
  • p.Ala108= Multiple submitters Cardiovascular phenotype
  • p.Asp67= Multiple submitters Cardiovascular phenotype
  • p.Ser69= Multiple submitters Cardiovascular phenotype

Likely benign 123

  • c.203-14C>T Multiple submitters dilated cardiomyopathy 1Z
  • c.203-16T>C Multiple submitters dilated cardiomyopathy 1Z
  • c.24+10A>G Multiple submitters dilated cardiomyopathy 1Z
  • c.24+13G>T Multiple submitters hypertrophic cardiomyopathy 13
  • c.454+17G>A Multiple submitters dilated cardiomyopathy 1Z
  • c.55+20_55+21del Multiple submitters hypertrophic cardiomyopathy 13
  • c.56-9T>C Multiple submitters hypertrophic cardiomyopathy 13
  • p.Ala31= Multiple submitters Cardiovascular phenotype
  • p.Asn144= Multiple submitters Cardiovascular phenotype
  • p.Asp109= Multiple submitters Cardiovascular phenotype
  • p.Asp131= Multiple submitters hypertrophic cardiomyopathy 13
  • p.Asp139= Multiple submitters hypertrophic cardiomyopathy 13
  • p.Asp145= Multiple submitters dilated cardiomyopathy 1Z
  • p.Asp87= Multiple submitters Cardiovascular phenotype
  • p.Cys35= Multiple submitters Cardiovascular phenotype
  • p.Glu152= Multiple submitters Cardiovascular phenotype
  • p.Glu56= Multiple submitters dilated cardiomyopathy 1Z
  • p.Glu96= Multiple submitters dilated cardiomyopathy 1Z
  • p.Gly30= Multiple submitters dilated cardiomyopathy 1Z
  • p.Gly34= Multiple submitters dilated cardiomyopathy 1Z
  • p.Gly49= Multiple submitters hypertrophic cardiomyopathy 13
  • p.Ile112= Multiple submitters Cardiovascular phenotype
  • p.Ile128= Multiple submitters cardiomyopathy
  • p.Ile148= Multiple submitters Cardiovascular phenotype
  • p.Ile61= Multiple submitters Cardiovascular phenotype
  • p.Leu121= Multiple submitters Cardiovascular phenotype
  • p.Leu97= Multiple submitters Cardiovascular phenotype
  • p.Lys158= Multiple submitters Cardiovascular phenotype
  • p.Lys6= Multiple submitters dilated cardiomyopathy 1Z
  • p.Phe24= Multiple submitters Cardiovascular phenotype
  • p.Phe74= Multiple submitters Cardiovascular phenotype
  • p.Thr124= Multiple submitters dilated cardiomyopathy 1Z
  • p.Thr71= Multiple submitters Cardiovascular phenotype
  • p.Val160= Multiple submitters dilated cardiomyopathy 1Z
  • c.202+10C>G Single submitter dilated cardiomyopathy 1Z
  • c.202+10C>T Single submitter hypertrophic cardiomyopathy 13
  • c.202+12C>T Single submitter hypertrophic cardiomyopathy 13
  • c.202+13C>T Single submitter hypertrophic cardiomyopathy 13
  • c.202+16C>G Single submitter dilated cardiomyopathy 1Z
  • c.202+19A>G Single submitter dilated cardiomyopathy 1Z
  • c.202+20G>A Single submitter dilated cardiomyopathy 1Z
  • c.202+8C>A Single submitter dilated cardiomyopathy 1Z
  • c.203-13dup Single submitter dilated cardiomyopathy 1Z
  • c.203-17A>G Single submitter dilated cardiomyopathy 1Z
  • c.203-7C>A Single submitter dilated cardiomyopathy 1Z
  • c.203-7C>T Single submitter dilated cardiomyopathy 1Z
  • c.203-8A>G Single submitter dilated cardiomyopathy 1Z
  • c.203-9C>G Single submitter hypertrophic cardiomyopathy 13
  • c.24+17G>A Single submitter dilated cardiomyopathy 1Z
  • c.24+18G>A Single submitter dilated cardiomyopathy 1Z
  • c.24+19T>C Single submitter dilated cardiomyopathy 1Z
  • c.24+9C>G Single submitter dilated cardiomyopathy 1Z
  • c.24+9C>T Single submitter dilated cardiomyopathy 1Z
  • c.25-13C>G Single submitter hypertrophic cardiomyopathy 13
  • c.25-13C>T Single submitter hypertrophic cardiomyopathy 13
  • c.25-14C>T Single submitter hypertrophic cardiomyopathy 13
  • c.25-19G>A Single submitter dilated cardiomyopathy 1Z
  • c.25-9C>A Single submitter dilated cardiomyopathy 1Z
  • c.317+16T>C Single submitter dilated cardiomyopathy 1Z
  • c.317+18G>A Single submitter dilated cardiomyopathy 1Z
  • c.317+7A>G Single submitter dilated cardiomyopathy 1Z
  • c.317+9G>T Single submitter hypertrophic cardiomyopathy 13
  • c.318-10C>T Single submitter dilated cardiomyopathy 1Z
  • c.318-14C>A Single submitter dilated cardiomyopathy 1Z
  • c.318-17G>A Single submitter dilated cardiomyopathy 1Z
  • c.318-19C>T Single submitter hypertrophic cardiomyopathy 13
  • c.318-20C>T Single submitter hypertrophic cardiomyopathy 13
  • c.318-7C>T Single submitter dilated cardiomyopathy 1Z
  • c.454+15G>A Single submitter dilated cardiomyopathy 1Z
  • c.454+17G>C Single submitter hypertrophic cardiomyopathy 13
  • c.454+18C>T Single submitter dilated cardiomyopathy 1Z
  • c.454+6dup Single submitter dilated cardiomyopathy 1Z
  • c.454+8G>C Single submitter hypertrophic cardiomyopathy 13
  • c.455-18C>T Single submitter hypertrophic cardiomyopathy 13
  • c.455-19C>A Single submitter dilated cardiomyopathy 1Z
  • c.455-5C>T Single submitter hypertrophic cardiomyopathy 13
  • c.455-7T>C Single submitter hypertrophic cardiomyopathy 13
  • c.55+17C>T Single submitter dilated cardiomyopathy 1Z
  • c.55+20A>G Single submitter hypertrophic cardiomyopathy 13
  • c.56-10C>T Single submitter hypertrophic cardiomyopathy 13
  • c.56-12C>T Single submitter hypertrophic cardiomyopathy 13
  • c.56-13C>T Single submitter dilated cardiomyopathy 1Z
  • c.56-14A>C Single submitter dilated cardiomyopathy 1Z
  • c.56-16C>T Single submitter dilated cardiomyopathy 1Z
  • c.56-17C>T Single submitter dilated cardiomyopathy 1Z
  • c.56-18C>T Single submitter
  • p.Ala123= Single submitter dilated cardiomyopathy 1Z
  • p.Ala22= Single submitter Cardiovascular phenotype
  • p.Arg147= Single submitter Cardiovascular phenotype
  • p.Arg46= Single submitter Cardiovascular phenotype
  • p.Arg83= Single submitter hypertrophic cardiomyopathy 13
  • p.Asp132= Single submitter dilated cardiomyopathy 1Z
  • p.Asp25= Single submitter dilated cardiomyopathy 1Z
  • p.Asp3= Single submitter dilated cardiomyopathy 1Z
  • p.Asp62= Single submitter Cardiovascular phenotype
  • p.Asp73= Single submitter dilated cardiomyopathy 1Z
  • p.Asp75= Single submitter dilated cardiomyopathy 1Z
  • p.Asp88= Single submitter hypertrophic cardiomyopathy 13
  • p.Cys84= Single submitter hypertrophic cardiomyopathy 13
  • p.Glu10= Single submitter dilated cardiomyopathy 1Z
  • p.Glu130= Single submitter dilated cardiomyopathy 1Z
  • p.Glu134= Single submitter Cardiovascular phenotype
  • p.Glu15= Single submitter dilated cardiomyopathy 1Z
  • p.Glu161= Single submitter hypertrophic cardiomyopathy 13
  • p.Glu40= Single submitter dilated cardiomyopathy 1Z
  • p.Glu55= Single submitter dilated cardiomyopathy 1Z
  • p.Glu59= Single submitter hypertrophic cardiomyopathy 13
  • p.Gly110= Single submitter hypertrophic cardiomyopathy 13
  • p.Gly125= Single submitter hypertrophic cardiomyopathy 13
  • p.Ile133= Single submitter hypertrophic cardiomyopathy 13
  • p.Leu100= Single submitter Cardiovascular phenotype
  • p.Leu117= Single submitter dilated cardiomyopathy 1Z
  • p.Leu136= Single submitter dilated cardiomyopathy 1Z
  • p.Leu41= Single submitter Cardiovascular phenotype
  • p.Leu57= Single submitter hypertrophic cardiomyopathy 13
  • p.Lys118= Single submitter dilated cardiomyopathy 1Z
  • p.Lys17= Single submitter dilated cardiomyopathy 1Z
  • p.Lys90= Single submitter hypertrophic cardiomyopathy 13
  • p.Lys92= Single submitter cardiomyopathy
  • p.Pro52= Single submitter Cardiovascular phenotype
  • p.Pro54= Single submitter hypertrophic cardiomyopathy 13
  • p.Tyr5= Single submitter hypertrophic cardiomyopathy 13
  • p.Ser37= No assertion criteria

Uncertain significance 206