Total 5 pathogenic variants reported for Lennox-Gastaut syndrome

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_198904.4(GABRG2):c.406C>T (p.Arg136Ter)	SNV Germline	Chr5:162097716	Pathogenic	Lennox-Gastaut syndrome Epilepsy, childhood absence 2 Febrile seizures, familial, 8	Criteria Provided Multiple Submitters No Conflicts		rs_796052504	2 SubmittersRCV000844886 RCV001041149
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys)	SNV Germline	Chr8:132180246	Pathogenic/Likely pathogenic	Condition: not provided Seizures, benign familial neonatal, 2 Severe neurodevelopmental delay Benign neonatal seizures KCNQ3-related developmental disability Intellectual disability, severe Seizures, benign familial infantile, 5 Intellectual disability Lennox-Gastaut syndrome Benign neonatal seizures Intellectual disability KCNQ3-related Autism and developmental disability Neurodevelopmental disorder	Criteria Provided Multiple Submitters No Conflicts	CA315593	rs_796052676	22 SubmittersRCV000187968 RCV000210407 RCV000824686 RCV001042557 RCV002273976 RCV003223394 RCV000824975 RCV001249311 RCV001257743 RCV004799197 RCV004786513
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)	SNV Germline	Chr15:89327198	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Condition: not provided Lennox-Gastaut syndrome 6 conditions Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Progressive sclerosing poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4b POLG-Related Spectrum Disorders Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Hereditary spastic paraplegia Inborn genetic diseases not specified POLG-related disorder Mitochondrial disease Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4b	Criteria Provided Conflicting Classifications	CA316834	rs_145843073	24 SubmittersRCV000470781 RCV000658725 RCV000678827 RCV000763995 RCV001004603 RCV001027840 RCV001117972 RCV001330959 RCV001610504 RCV001847836 RCV002314743 RCV003230444 RCV004725036 RCV004786516 RCV004799199
NM_004408.4(DNM1):c.590-2A>G	SNV Unknown	Chr9:128219986	Pathogenic	Lennox-Gastaut syndrome West syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002284151