ClinVar Miner

Submissions for variant NM_005076.5(CNTN2):c.2697dup (p.Ser900fs)

dbSNP: rs2151200083
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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 RCV001946852 SCV002239000 pathogenic Epilepsy, familial adult myoclonic, 5 2021-06-14 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with CNTN2-related conditions. This sequence change creates a premature translational stop signal (p.Ser900Glnfs*28) 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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