ClinVar Miner

Submissions for variant NM_000742.4(CHRNA2):c.1378C>A (p.Leu460Met)

dbSNP: rs765948265
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693581 SCV000821454 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 2018-05-02 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. This sequence change replaces leucine with methionine at codon 460 of the CHRNA2 protein (p.Leu460Met). The leucine residue is weakly conserved and there is a small physicochemical difference between leucine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CHRNA2-related disease.

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