ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.988C>T (p.Gln330Ter)

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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 RCV003064380 SCV003443698 pathogenic Congenital myasthenic syndrome 4A 2022-06-19 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln330*) 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). This variant has not been reported in the literature in individuals affected with CHRNE-related conditions. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003064380 SCV004214296 pathogenic Congenital myasthenic syndrome 4A 2022-02-12 criteria provided, single submitter clinical testing

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