ClinVar Miner

Submissions for variant NC_000017.10:g.(?_4804068)_(4806078_?)del

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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 RCV004581283 SCV005065377 pathogenic Congenital myasthenic syndrome 4A 2023-10-12 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 2-8 of the CHRNE gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in CHRNE are known to be pathogenic (PMID: 22678886). 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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