ClinVar Miner

Submissions for variant NM_000397.4(CYBB):c.988_989del (p.Pro330fs)

dbSNP: rs1602183161
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008585 SCV001168358 likely pathogenic not provided 2019-02-19 criteria provided, single submitter clinical testing The c.988_989delCC variant in the CYBB gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.988_989delCC variant causes a frameshift starting with codon Proline 330, changes this amino acid to a Lysine residue, and creates a premature Stop codon at position 17 of the new reading frame, denoted p.Pro330LysfsX17. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.988_989delCC variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.988_989delCC as a likely pathogenic variant.

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