ClinVar Miner

Submissions for variant NM_005076.5(CNTN2):c.1481T>C (p.Met494Thr)

gnomAD frequency: 0.00001  dbSNP: rs1654184527
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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 RCV001965629 SCV002243995 uncertain significance Epilepsy, familial adult myoclonic, 5 2021-06-22 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with CNTN2-related conditions. 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CNTN2 protein function. This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with threonine at codon 494 of the CNTN2 protein (p.Met494Thr). The methionine residue is highly conserved and there is a moderate physicochemical difference between methionine and threonine.

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