ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.1108del (p.Arg370fs)

dbSNP: rs1969856640
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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 RCV001231951 SCV001404489 pathogenic Congenital myasthenic syndrome 4A 2023-06-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 958734). This variant has not been reported in the literature in individuals affected with CHRNE-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg370Glyfs*15) 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).
Baylor Genetics RCV001231951 SCV004212576 likely pathogenic Congenital myasthenic syndrome 4A 2024-03-20 criteria provided, single submitter clinical testing

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