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 has not been reported in the literature in individuals with CNTN2-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (ExAC no frequency). 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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