ClinVar Miner

Submissions for variant NM_005076.5(CNTN2):c.798C>T (p.Asn266=)

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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 RCV003112036 SCV003785105 uncertain significance Epilepsy, familial adult myoclonic, 5 2022-07-06 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with CNTN2-related conditions. This sequence change affects codon 266 of the CNTN2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CNTN2 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency).

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