ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.1323dup (p.Glu442fs)

dbSNP: rs1597613302
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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 RCV000811751 SCV000952034 pathogenic Congenital myasthenic syndrome 4A 2022-08-15 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CHRNE-related conditions. 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. ClinVar contains an entry for this variant (Variation ID: 655554). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu442Argfs*14) in the CHRNE gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 52 amino acid(s) of the CHRNE protein.

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