ClinVar Miner

Submissions for variant NM_000101.4(CYBA):c.345del (p.Ile116fs)

dbSNP: rs2142873834
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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 RCV001377396 SCV001574716 likely pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2020-08-26 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. This variant disrupts the C-terminus of the CYBA protein. Other variant(s) that disrupt this region (p.Ile134Serfs*57, p.Pro160Alafs*27, p.Lys137Serfs*54, p.Glu129Serfs*61, p.Q130*) have been observed in individuals with CYBA-related conditions (PMID: 20167518, 19292887, 18422995, 27980538). This suggests that this may be a clinically significant region of the protein. This variant has not been reported in the literature in individuals with CYBA-related conditions. This sequence change results in a premature translational stop signal in the CYBA gene (p.Ile116Leufs*75). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 80 amino acids of the CYBA protein.

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