Total 6 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, SUSCEPTIBILITY TO, 2 Febrile seizures, familial, 8	Criteria Provided Multiple Submitters No Conflicts	CA314709	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 Seizures, benign familial infantile, 5 Benign neonatal seizures Intellectual disability Intellectual disability Benign neonatal seizures Lennox-Gastaut syndrome KCNQ3-related developmental disability Intellectual disability, severe Neurodevelopmental disorder KCNQ3-related Autism and developmental disability Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA315593	rs_796052676	25 SubmittersRCV000187968 RCV000210407 RCV000824686 RCV000824975 RCV001042557 RCV001257743 RCV001249311 RCV002273976 RCV003223394 RCV004786513 RCV004799197 RCV005365110
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 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive sclerosing poliodystrophy 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 Mitochondrial disease POLG-related disorder Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	Criteria Provided Conflicting Classifications	CA316834	rs_145843073	25 SubmittersRCV000470781 RCV000658725 RCV000678827 RCV000763995 RCV001027840 RCV001004603 RCV001117972 RCV001330959 RCV001610504 RCV001847836 RCV002314743 RCV003230444 RCV004786516 RCV004725036 RCV004799199
NM_001127222.2(CACNA1A):c.2127G>T (p.Leu709Phe)	SNV Germline	Chr19:13303591	Conflicting classifications of pathogenicity	Condition: not provided Developmental and epileptic encephalopathy, 42 Episodic ataxia type 2 Migraine, familial hemiplegic, 1 Spinocerebellar ataxia type 6 Episodic ataxia type 2 CACNA1A-related complex neurodevelopmental disorder Lennox-Gastaut syndrome	Criteria Provided Conflicting Classifications	CA10603434	rs_886041654	3 SubmittersRCV000404656 RCV003765579 RCV005429010
NM_004408.4(DNM1):c.590-2A>G	SNV Unknown	Chr9:128219986	Pathogenic	Lennox-Gastaut syndrome West syndrome	Criteria Provided Single Submitter	CA375012112	rs_2538983876	1 SubmittersRCV002284151