ClinVar Miner

Submissions for variant NM_020549.5(CHAT):c.1663G>T (p.Glu555Ter)

dbSNP: rs757303526
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001780769 SCV002022529 likely pathogenic Familial infantile myasthenia 2019-10-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV001780769 SCV004215824 pathogenic Familial infantile myasthenia 2023-03-09 criteria provided, single submitter clinical testing
Invitae RCV001780769 SCV004294371 pathogenic Familial infantile myasthenia 2023-06-16 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1324064). This premature translational stop signal has been observed in individual(s) with congenital myasthenic syndrome (PMID: 21786365). This variant is present in population databases (no rsID available, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Glu555*) 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). For these reasons, this variant has been classified as Pathogenic.

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