ClinVar Miner

Submissions for variant NM_000747.3(CHRNB1):c.353+1del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003444407 SCV004171309 likely pathogenic Congenital myasthenic syndrome 2A criteria provided, single submitter clinical testing The invariant splice donor c.353+1del variant in CHRNB1 gene has not been reported previously as a pathogenic variant nor a benign variant, to our knowledge. The c.353+1del variant has been reported with allele frequency of 0.0004% in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant has not been reported to the ClinVar database. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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