ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.1238dup (p.Ala415fs)

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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 RCV002851140 SCV003212931 pathogenic Congenital myasthenic syndrome 4A 2022-07-05 criteria provided, single submitter clinical testing This variant disrupts a region of the CHRNE protein in which other variant(s) (p.Ala431Pro) have been determined to be pathogenic (PMID: 10962020). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with CHRNE-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala415Argfs*41) in the CHRNE gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 79 amino acid(s) of the CHRNE protein. For these reasons, this variant has been classified as Pathogenic.

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