ClinVar Miner

Submissions for variant NM_000742.4(CHRNA2):c.16C>T (p.Pro6Ser)

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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 RCV002595962 SCV003498686 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 2022-11-22 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 6 of the CHRNA2 protein (p.Pro6Ser). This variant is present in population databases (rs746835048, gnomAD 0.003%). 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 CHRNA2 protein function. This variant has not been reported in the literature in individuals affected with CHRNA2-related conditions.

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