ClinVar Miner

Submissions for variant NM_000101.4(CYBA):c.385G>T (p.Glu129Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003603018 SCV004518809 likely pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2023-07-14 criteria provided, single submitter clinical testing This variant disrupts the C-terminus of the CYBA protein. Other variant(s) that disrupt this region (p.Lys137Serfs*54 , Lys166Argfs*17, p.Pro160Argfs*31) have been observed in individuals with CYBA-related conditions (PMID: 19292887, 30716179). This suggests that this may be a clinically significant region of the protein. This sequence change creates a premature translational stop signal (p.Glu129*) in the CYBA gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 67 amino acid(s) of the CYBA protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of chronic granulomatous disease (Invitae). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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