ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.1096_1105dup (p.Pro369fs)

dbSNP: rs1255916068
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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 RCV001058201 SCV001222753 pathogenic Congenital myasthenic syndrome 4A 2021-10-27 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 853401). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CHRNE-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Pro369Argfs*31) in the CHRNE gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CHRNE are known to be pathogenic (PMID: 22678886).

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