ClinVar Miner

Submissions for variant NM_020549.5(CHAT):c.1882C>T (p.Arg628Trp)

dbSNP: rs116097791
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001215166 SCV001386895 uncertain significance Familial infantile myasthenia 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 628 of the CHAT protein (p.Arg628Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs116097791, ExAC 0.006%). This variant has not been reported in the literature in individuals affected with CHAT-related conditions. 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: "Deleterious"; 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.
Revvity Omics, Revvity Omics RCV001215166 SCV003831674 uncertain significance Familial infantile myasthenia 2019-08-27 criteria provided, single submitter clinical testing

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