ClinVar Miner

Submissions for variant NM_000742.4(CHRNA2):c.527C>A (p.Pro176Gln)

dbSNP: rs769273715
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001295750 SCV001484695 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 2023-04-10 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 expected to disrupt CHRNA2 protein function. ClinVar contains an entry for this variant (Variation ID: 999717). This missense change has been observed in at least one individual who was not affected with CHRNA2-related conditions (Invitae). This variant has not been reported in the literature in individuals affected with CHRNA2-related conditions. This variant is present in population databases (rs769273715, gnomAD 0.01%). This sequence change replaces proline, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 176 of the CHRNA2 protein (p.Pro176Gln).
Mayo Clinic Laboratories, Mayo Clinic RCV001507728 SCV001713456 uncertain significance not provided 2019-12-11 criteria provided, single submitter clinical testing

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