ClinVar Miner

Submissions for variant NM_005076.5(CNTN2):c.2587C>T (p.Arg863Ter)

dbSNP: rs531184069
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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 RCV001381853 SCV001580411 pathogenic Epilepsy, familial adult myoclonic, 5 2023-02-20 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CNTN2-related conditions. This sequence change creates a premature translational stop signal (p.Arg863*) 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). This variant is present in population databases (rs531184069, gnomAD 0.003%). ClinVar contains an entry for this variant (Variation ID: 1069884). For these reasons, this variant has been classified as Pathogenic.

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