ClinVar Miner

Submissions for variant NM_000742.4(CHRNA2):c.905C>T (p.Ser302Leu)

gnomAD frequency: 0.00004  dbSNP: rs367914235
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001773244 SCV002001681 uncertain significance not provided 2020-02-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002540582 SCV002992629 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 2023-11-06 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 302 of the CHRNA2 protein (p.Ser302Leu). This variant is present in population databases (rs367914235, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with CHRNA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1315050). 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 with a positive predictive value of 80%. 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.

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