ClinVar Miner

Submissions for variant NM_000742.4(CHRNA2):c.1479_1482dup (p.Tyr495fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003232031 SCV003930269 uncertain significance not provided 2023-05-10 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in the last 35 amino acids being replaced with 50 different amino acids; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV005102465 SCV005771610 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 2024-06-07 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the CHRNA2 gene (p.Tyr495Glufs*51). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 35 amino acid(s) of the CHRNA2 protein and extend the protein by 15 additional amino acid residues. This variant is present in population databases (no rsID available, gnomAD 0.01%). 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: 2504570). 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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