ClinVar Miner

Submissions for variant NM_000397.4(CYBB):c.54_79del (p.Trp18fs)

dbSNP: rs1556464542
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498387 SCV000590744 pathogenic not provided 2017-06-19 criteria provided, single submitter clinical testing The c.54_79del26 variant in the CYBB gene causes a frameshift starting with codon Tryptophan 18, changes this amino acid to a Cysteine residue and creates a premature Stop codon at position 8 of the new reading frame, denoted p.Trp18CysfsX8. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Although this variant has not been previously reported to our knowledge, we consider it to be pathogenic.

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