ClinVar Miner

Submissions for variant NM_000742.4(CHRNA2):c.1393C>G (p.His465Asp)

dbSNP: rs772765800
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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 RCV001999572 SCV002291642 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 2021-01-30 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 CHRNA2 protein function. This variant has not been reported in the literature in individuals with CHRNA2-related conditions. This variant is present in population databases (rs772765800, ExAC 0.002%). This sequence change replaces histidine with aspartic acid at codon 465 of the CHRNA2 protein (p.His465Asp). The histidine residue is weakly conserved and there is a moderate physicochemical difference between histidine and aspartic acid.

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