ClinVar Miner

Submissions for variant NM_020549.5(CHAT):c.1883G>A (p.Arg628Gln)

gnomAD frequency: 0.00040  dbSNP: rs114545628
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174788 SCV000226155 uncertain significance not provided 2015-01-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000636630 SCV000758069 likely benign Familial infantile myasthenia 2024-11-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000636630 SCV003833224 uncertain significance Familial infantile myasthenia 2023-12-12 criteria provided, single submitter clinical testing
GeneDx RCV000174788 SCV005882126 uncertain significance not provided 2024-09-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Observed with a second CHAT pathogenic variant in 4 members of a family affected with arthrogryposis multiplex congenita; however segregation and pedigree data were not provided (PMID: 33820833); This variant is associated with the following publications: (PMID: 26080897, 33820833)

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