ClinVar Miner

Submissions for variant NM_020549.5(CHAT):c.208del (p.Leu70fs)

dbSNP: rs1838400244
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001227454 SCV001399815 uncertain significance Familial infantile myasthenia 2021-07-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu70Phefs*130) in the CHAT gene. However, it is currently unclear if variants that occur in this region of the gene cause disease. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with CHAT-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.

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