ClinVar Miner

Submissions for variant NM_000080.4(CHRNE):c.209_210del (p.Leu70fs)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003468434 SCV004214270 likely pathogenic Congenital myasthenic syndrome 4A 2023-03-15 criteria provided, single submitter clinical testing
Palindrome, Gene Kavoshgaran Aria RCV004775408 SCV005382624 pathogenic Congenital myasthenic syndrome 4B 2024-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003468434 SCV005767771 pathogenic Congenital myasthenic syndrome 4A 2024-02-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu70Hisfs*3) 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 not present in population databases (gnomAD no frequency). 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.

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