ClinVar Miner

Submissions for variant NM_005076.5(CNTN2):c.835T>A (p.Ser279Thr)

dbSNP: rs2151191847
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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 RCV001985333 SCV002222168 uncertain significance Epilepsy, familial adult myoclonic, 5 2021-08-28 criteria provided, single submitter clinical testing 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 has not been reported in the literature in individuals affected with CNTN2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with threonine at codon 279 of the CNTN2 protein (p.Ser279Thr). The serine residue is highly conserved and there is a small physicochemical difference between serine and threonine.

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