ClinVar Miner

Submissions for variant NM_020549.5(CHAT):c.472C>T (p.Gln158Ter)

dbSNP: rs1838635016
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001380873 SCV001579058 pathogenic Familial infantile myasthenia 2022-03-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln158*) 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 not present in population databases (gnomAD no frequency). 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: 1069123). For these reasons, this variant has been classified as Pathogenic.

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