ClinVar Miner

Submissions for variant NM_000747.3(CHRNB1):c.919del (p.Ile307fs)

dbSNP: rs886041490
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000338656 SCV000330154 pathogenic not provided 2016-11-01 criteria provided, single submitter clinical testing The c.919delA variant in the CHRNB1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant causes a frameshift starting with codon Isoleucine 307, changes this amino acid to a Leucine residue, and creates a premature Stop codon at position 54 of the new reading frame, denoted p.Ile307LeufsX54. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.919delA variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.919delA as a pathogenic variant.

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