ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.918-1G>A

dbSNP: rs1407243713
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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 RCV000706373 SCV000835417 pathogenic Congenital myasthenic syndrome 4A 2023-08-30 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 8 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 congenital myasthenic syndrome (PMID: 14592868). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as IVS8-1G>A. ClinVar contains an entry for this variant (Variation ID: 582326). 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.
Baylor Genetics RCV000706373 SCV004212570 pathogenic Congenital myasthenic syndrome 4A 2023-10-17 criteria provided, single submitter clinical testing

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