ClinVar Miner

Submissions for variant NM_000742.4(CHRNA2):c.1498_1500del (p.Ile500del)

dbSNP: rs760166123
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186892 SCV000240463 uncertain significance not specified 2014-09-18 criteria provided, single submitter clinical testing c.1498_1500delATC: p.Ile500del (I500del) in exon 7 of the CHRNA2 gene (NM_000742.3). The normal sequence with the bases that are deleted in braces is: GGTC{ATC}GACA. A variant of unknown significance has been identified in the CHRNA2 gene. The c.1498_1500delATC variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The c.1498_1500delATC variant causes an in-frame deletion of a single Isoleucine residue, denoted p.I500del. However, it alters a position in the CHRNA2 protein that is not well conserved across species. In addition, in frame deletions of CHRNA2 have not been previously reported to our knowledge. Therefore, based on the currently available information, it is unclear whether c.1498_1500delATC is a disease-causing mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).
Labcorp Genetics (formerly Invitae), Labcorp RCV001857605 SCV002269552 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 2023-09-22 criteria provided, single submitter clinical testing This variant, c.1498_1500del, results in the deletion of 1 amino acid(s) of the CHRNA2 protein (p.Ile500del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs760166123, gnomAD 0.004%). 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: 204986). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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