ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.1075A>T (p.Lys359Ter)

dbSNP: rs1555837732
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000559027 SCV000658061 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 2020-01-24 criteria provided, single submitter clinical testing The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CHRNA4 cause disease. Therefore, this variant has been classified as a Variant of Uncertain Significance. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a CHRNA4-related disease. This sequence change creates a premature translational stop signal at codon 359 (p.Lys359*) of the CHRNA4 gene. It is expected to result in an absent or disrupted protein product.

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