ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.794del (p.Pro265fs)

dbSNP: rs756675414
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000687462 SCV000815027 pathogenic Congenital myasthenic syndrome 4A 2024-01-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro265Argfs*35) 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 (rs756675414, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with CHRNE-related conditions. ClinVar contains an entry for this variant (Variation ID: 567393). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001784311 SCV002019304 pathogenic not provided 2019-10-09 criteria provided, single submitter clinical testing
Baylor Genetics RCV000687462 SCV004212599 pathogenic Congenital myasthenic syndrome 4A 2024-01-26 criteria provided, single submitter clinical testing

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