ClinVar Miner

Submissions for variant NM_020549.5(CHAT):c.1387C>T (p.Gln463Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002771633 SCV003029998 pathogenic Familial infantile myasthenia 2023-11-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln463*) in the CHAT gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CHAT are known to be pathogenic (PMID: 12548525, 21786365, 23292760). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with CHAT-related conditions. ClinVar contains an entry for this variant (Variation ID: 1991517). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV002771633 SCV004215818 likely pathogenic Familial infantile myasthenia 2023-04-28 criteria provided, single submitter clinical testing

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