ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.802+2T>A

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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 RCV003640781 SCV004482832 pathogenic Congenital myasthenic syndrome 4A 2023-02-06 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 7 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 individuals with autosomal recessive congenital myasthenic syndrome (PMID: 9708546, 31773638). It has also been observed to segregate with disease in related individuals. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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