ClinVar Miner

Submissions for variant NM_020549.5(CHAT):c.1892C>T (p.Ala631Val)

dbSNP: rs765840442
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001340527 SCV001534343 uncertain significance Familial infantile myasthenia 2020-02-03 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with CHAT-related conditions. This variant is present in population databases (rs765840442, ExAC 0.001%). This sequence change replaces alanine with valine at codon 631 of the CHAT protein (p.Ala631Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine.

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