ClinVar Miner

Submissions for variant NM_020549.5(CHAT):c.1681C>T (p.Arg561Ter)

gnomAD frequency: 0.00001  dbSNP: rs1458796820
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002000015 SCV002229024 pathogenic Familial infantile myasthenia 2023-07-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1452884). This variant has not been reported in the literature in individuals affected with CHAT-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Arg561*) 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).
Baylor Genetics RCV002000015 SCV004215806 likely pathogenic Familial infantile myasthenia 2023-08-21 criteria provided, single submitter clinical testing

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