ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.569dup (p.Asn190fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003527225 SCV004296471 pathogenic Congenital myasthenic syndrome 4A 2023-01-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant is also known as 509insA. This premature translational stop signal has been observed in individual(s) with CHRNE-related conditions (PMID: 12417530). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn190Lysfs*12) in the CHRNE gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CHRNE are known to be pathogenic (PMID: 22678886).

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