ClinVar Miner

Submissions for variant NM_000747.3(CHRNB1):c.1072_1073del (p.Leu358fs)

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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 RCV002857686 SCV003229070 pathogenic Congenital myasthenic syndrome 2A 2022-08-09 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CHRNB1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu358Alafs*31) in the CHRNB1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CHRNB1 are known to be pathogenic (PMID: 10562302). For these reasons, this variant has been classified as Pathogenic.

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