ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.1002_1008dup (p.Ala337fs)

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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 RCV003013354 SCV003303548 pathogenic Congenital myasthenic syndrome 4A 2023-08-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala337Hisfs*62) 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). This variant is present in population databases (rs757396750, gnomAD 0.005%). 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. ClinVar contains an entry for this variant (Variation ID: 2090933).
Baylor Genetics RCV003013354 SCV004212586 pathogenic Congenital myasthenic syndrome 4A 2024-03-17 criteria provided, single submitter clinical testing

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