ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.1248_1266dup (p.Cys423fs)

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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 RCV002725759 SCV002994192 pathogenic Congenital myasthenic syndrome 4A 2022-12-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the CHRNE protein in which other variant(s) (p.Asn452Glufs*4) have been determined to be pathogenic (PMID: 8957026, 15951177, 19064877, 21175599, 28024842, 29054425). 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 is also known as 1206ins19. This premature translational stop signal has been observed in individuals with autosomal recessive congenital myasthenic syndrome (PMID: 9708546, 30898524). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Cys423Argfs*39) in the CHRNE gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 71 amino acid(s) of the CHRNE protein.
Baylor Genetics RCV002725759 SCV004214258 pathogenic Congenital myasthenic syndrome 4A 2023-05-09 criteria provided, single submitter clinical testing

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