ClinVar Miner

Submissions for variant NM_020549.5(CHAT):c.522_523dup (p.Leu175fs)

dbSNP: rs1404321683
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001230067 SCV001402535 pathogenic Familial infantile myasthenia 2023-12-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu175Profs*26) 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 present in population databases (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with congenital myasthenic syndrome (PMID: 11172068). ClinVar contains an entry for this variant (Variation ID: 957139). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV001230067 SCV000039344 pathogenic Familial infantile myasthenia 2001-02-13 no assertion criteria provided literature only

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