ClinVar Miner

Submissions for variant NM_020549.5(CHAT):c.1715C>G (p.Ser572Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001232268 SCV001404818 likely pathogenic Familial infantile myasthenia 2020-01-24 criteria provided, single submitter clinical testing This sequence change replaces serine with tryptophan at codon 572 of the CHAT protein (p.Ser572Trp). The serine residue is highly conserved and there is a large physicochemical difference between serine and tryptophan. This variant is present in population databases (rs753652169, ExAC 0.01%). This variant has been observed in combination with another CHAT variant in individual(s) with congenital myasthenic syndrome (PMID: 21786365). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant has been reported to affect CHAT protein function (PMID: 21786365). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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