ClinVar Miner

Submissions for variant NM_020549.4(CHAT):c.620G>A (p.Arg207His) (rs764497513)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726404 SCV000344407 pathogenic not provided 2016-08-16 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000291500 SCV000594092 likely pathogenic Familial infantile myasthenia 2015-11-12 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000291500 SCV000784499 uncertain significance Familial infantile myasthenia 2018-03-05 criteria provided, single submitter clinical testing
Invitae RCV000291500 SCV000815431 uncertain significance Familial infantile myasthenia 2018-03-16 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 207 of the CHAT protein (p.Arg207His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs764497513, ExAC 0.01%). This variant has been reported as homozygous in individuals affected with congenital myasthenic syndrome (PMID:26080897). ClinVar contains an entry for this variant (Variation ID: 289944). Experimental evidence suggests that this variant results in reduced expression of CHAT protein and impaired enzyme kinetics (PMID: 26080897). 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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