ClinVar Miner

Submissions for variant NM_020549.4(CHAT):c.1823C>A (p.Thr608Asn) (rs773228076)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000174587 SCV000225908 uncertain significance not provided 2015-06-04 criteria provided, single submitter clinical testing
Invitae RCV001342539 SCV001536479 uncertain significance Familial infantile myasthenia 2020-03-18 criteria provided, single submitter clinical testing This sequence change replaces threonine with asparagine at codon 608 of the CHAT protein (p.Thr608Asn). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and asparagine. This variant is present in population databases (rs773228076, ExAC 0.002%). This variant has been observed in individual(s) with congenital myasthenic syndrome (PMID: 21786365). ClinVar contains an entry for this variant (Variation ID: 194259). This variant has been reported to affect CHAT protein function (PMID: 21786365). 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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