ClinVar Miner

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

dbSNP: rs763353895
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae 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

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