ClinVar Miner

Submissions for variant NM_020549.5(CHAT):c.1231G>T (p.Gly411Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003468388 SCV004215823 likely pathogenic Familial infantile myasthenia 2023-03-14 criteria provided, single submitter clinical testing
Invitae RCV003468388 SCV004519724 pathogenic Familial infantile myasthenia 2023-01-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CHAT-related conditions. This variant is present in population databases (rs746595362, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Gly411*) 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).

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