Submissions for variant NM_004974.4(KCNA2):c.193C>T (p.Arg65Ter)

dbSNP: rs763353895

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000545168	SCV000656454	pathogenic	Developmental and epileptic encephalopathy, 32	2022-07-05	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 476049). This premature translational stop signal has been observed in individuals with autosomal recessive KCNA2-related epilepsy (PMID: 27457812; Invitae). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs763353895, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Arg65*) in the KCNA2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 435 amino acid(s) of the KCNA2 protein.
Fulgent Genetics, Fulgent Genetics	RCV000545168	SCV000896124	uncertain significance	Developmental and epileptic encephalopathy, 32	2018-10-31	criteria provided, single submitter	clinical testing
Génétique des Maladies du Développement, Hospices Civils de Lyon	RCV004546522	SCV005043045	likely pathogenic	Seizure	2024-01-05	criteria provided, single submitter	clinical testing