ClinVar Miner

Submissions for variant NC_000017.11:g.(?_7454277)_(7454540_?)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 RCV000708468 SCV000837578 pathogenic Congenital myasthenic syndrome 2A 2022-10-25 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 8 of the CHRNB1 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 CHRNB1 are known to be pathogenic (PMID: 10562302). A similar copy number variant has been observed in individual(s) with autosomal recessive congenital myasthenic syndrome (PMID: 10562302). For these reasons, this variant has been classified as Pathogenic.

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