ClinVar Miner

Submissions for variant NM_020549.5(CHAT):c.1850_1851del (p.Gly617fs)

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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 RCV002629111 SCV003517226 pathogenic Familial infantile myasthenia 2024-01-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly617Aspfs*4) 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: 2198081). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV002629111 SCV004215812 likely pathogenic Familial infantile myasthenia 2023-12-17 criteria provided, single submitter clinical testing

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