ClinVar Miner

Submissions for variant NM_000747.3(CHRNB1):c.442C>T (p.Arg148Cys)

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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 RCV003340896 SCV004047718 uncertain significance Congenital myasthenic syndrome 2C criteria provided, single submitter clinical testing The missense variant c.442C>T (p.Arg148Cys) in CHRNB1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Arg at position 148 is changed to a Cys changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Arg148Cys in CHRNB1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain significance.

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