ClinVar Miner

Submissions for variant NM_000742.4(CHRNA2):c.884AGA[1] (p.Lys296del)

dbSNP: rs796052309
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186891 SCV000240462 uncertain significance not specified 2014-02-03 criteria provided, single submitter clinical testing c.887_889delAGA: p.Lys296del (K296del) in exon 6 of the CHRNA2 gene (NM_000742.3). The normal sequence with the bases that are deleted in braces is: GAGA{AGA}TCAC. The c.887_889delAGA variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It results in an in-frame deletion of a single Lysine residue at a conserved position between the first and second transmembrane domains of the protein. To date all pathogenic mutations in CHRNA2 are missense mutations within the transmembrane region of the protein (Steinlein et al., 2010). The variant is found in EPILEPSY panel(s).
Labcorp Genetics (formerly Invitae), Labcorp RCV003765164 SCV004660043 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 2023-01-24 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CHRNA2-related conditions. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 204985). This variant has been observed in at least one individual who was not affected with CHRNA2-related conditions (Invitae). This variant is not present in population databases (gnomAD no frequency). This variant, c.887_889del, results in the deletion of 1 amino acid(s) of the CHRNA2 protein (p.Lys296del), but otherwise preserves the integrity of the reading frame.

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