ClinVar Miner

List of variants in gene ACTA1 reported as uncertain significance for TPM3-related myopathy

Included ClinVar conditions (16):

Actin accumulation myopathy; Congenital myopathy with fiber type disproportion; Progressive scapulohumeroperoneal distal myopathy
Arthrogryposis, distal, type 1A; Congenital myopathy 23; Congenital myopathy with fiber type disproportion
Cap myopathy
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 myopathy with fiber type disproportion; Multiminicore myopathy
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital myopathy with fiber type disproportion; Multiminicore myopathy; Central core disease, autosomal recessive; Centronuclear myopathy
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital myopathy with fiber type disproportion; Multiminicore myopathy; Myopathy, RYR1-associated
Congenital myopathy 4B, autosomal recessive
Congenital myopathy 4B, autosomal recessive; Congenital myopathy with fiber type disproportion
Congenital myopathy with fiber type disproportion
Eichsfeld type congenital muscular dystrophy; Congenital myopathy with fiber type disproportion
Hypertrophic cardiomyopathy 1; Left ventricular noncompaction 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy; MYH7-related disorder
Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy
Malignant hyperthermia, susceptibility to, 1; Congenital myopathy with fiber type disproportion; Multiminicore myopathy; Centronuclear myopathy
TPM3-related myopathy

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

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001100.4(ACTA1):c.867C>T (p.Ile289=)	rs140074813	0.00009
NM_001100.4(ACTA1):c.435C>T (p.Tyr145=)	rs371410845	0.00003
NM_001100.4(ACTA1):c.809-14_809-13insA	rs749384329	0.00003
NM_001100.4(ACTA1):c.809-16_809-15insG	rs746125735	0.00002
NM_001100.4(ACTA1):c.*66G>A	rs1403018747	0.00001
NM_001100.4(ACTA1):c.1113C>G (p.Ile371Met)	rs886046075
NM_001100.4(ACTA1):c.1128C>T (p.Cys376=)	rs1659932688
NM_001100.4(ACTA1):c.129+14T>C	rs886046076
NM_001100.4(ACTA1):c.1A>G (p.Met1Val)	rs1659988389
NM_001100.4(ACTA1):c.480C>A (p.Gly160=)	rs1571893385
NM_001100.4(ACTA1):c.809-13_809-12dup	rs201427429
NM_001100.4(ACTA1):c.81C>T (p.Asp27=)	rs1553255533
NM_001100.4(ACTA1):c.880G>T (p.Asp294Tyr)
NM_001100.4(ACTA1):c.966G>A (p.Leu322=)	rs765996798

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