ClinVar Miner

List of variants reported as likely pathogenic for TTN-related myopathy by Genomics England Pilot Project, Genomics England

Included ClinVar conditions (35):

Autosomal dominant centronuclear myopathy; Myopathy, centronuclear, 5
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2J; Early-onset myopathy with fatal cardiomyopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy
Autosomal recessive titinopathy
Central core myopathy; Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Dilated cardiomyopathy 1G
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G; Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G; Myopathy, myofibrillar, 9, with early respiratory failure; Hypertrophic cardiomyopathy 9
Dilated cardiomyopathy 1G; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Hypertrophic cardiomyopathy 9
Early-onset myopathy with fatal cardiomyopathy
Early-onset myopathy with fatal cardiomyopathy; Congenital titinopathy
Hypertrophic cardiomyopathy 9
Myopathy, centronuclear, 2
Myopathy, centronuclear, 5
Myopathy, myofibrillar, 9, with early respiratory failure
Primary dilated cardiomyopathy; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy
Primary dilated cardiomyopathy; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure
Primary dilated cardiomyopathy; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Autosomal recessive centronuclear myopathy
Primary dilated cardiomyopathy; Myopathy, centronuclear, 2; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure
TTN-related myopathy
Tibial muscular dystrophy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.56572C>T (p.Arg18858Ter)	rs745376275	0.00002
NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu)	rs587780488
NM_001267550.2(TTN):c.51804_51805insCCAGTGCTATG (p.Ala17269fs)	rs2154198510
NM_001267550.2(TTN):c.69421_69422insAAAAG (p.Gly23141fs)	rs1247353236
NM_001267550.2(TTN):c.7433G>A (p.Trp2478Ter)	rs1561254509

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