ClinVar Miner

Submissions for variant NM_000397.3(CYBB):c.969A>G (p.Gln323=) (rs144764222)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000767950 SCV000898645 uncertain significance Atypical mycobacteriosis, familial, X-linked 2; Chronic granulomatous disease, X-linked 2018-09-28 criteria provided, single submitter clinical testing CYBB NM_000397.3 exon 9 p.Gln323= (c.969A>G): This variant has not been reported in the literature but is present in 9/18111 African alleles, including 1 hemizygote, in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs144764222). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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