ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.345-2A>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003475705 SCV004212593 likely pathogenic Congenital myasthenic syndrome 4A 2023-09-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003475705 SCV004463604 likely pathogenic Congenital myasthenic syndrome 4A 2023-10-14 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 4 of the CHRNE gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CHRNE are known to be pathogenic (PMID: 22678886). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with CHRNE-related condition(s) (PMID: 14532324). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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