ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.1076_1115del (p.Pro359fs)

dbSNP: rs2151094632
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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 RCV001380837 SCV001579022 pathogenic Congenital myasthenic syndrome 4A 2020-02-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CHRNE are known to be pathogenic (PMID: 22678886). This variant has not been reported in the literature in individuals with CHRNE-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Pro359Argfs*13) in the CHRNE gene. It is expected to result in an absent or disrupted protein product.

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