ClinVar Miner

Submissions for variant NM_005076.5(CNTN2):c.2740C>T (p.Arg914Ter)

dbSNP: rs768608238
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001924037 SCV002200313 pathogenic Epilepsy, familial adult myoclonic, 5 2021-09-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with CNTN2-related conditions. This variant is present in population databases (rs768608238, ExAC 0.002%). This sequence change creates a premature translational stop signal (p.Arg914*) in the CNTN2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CNTN2 are known to be pathogenic (PMID: 11178983, 23518707).

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