ClinVar Miner

Submissions for variant NM_000397.4(CYBB):c.217C>T (p.Arg73Ter)

dbSNP: rs137854588
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000254770 SCV000321529 pathogenic not provided 2024-07-03 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 11462241, 28153086, 35140711, 25525159, 1710153, 26453586, 29560547, 30470980, 31594065, 31269551, 32040803, 33365035, 33717137, 35728702, 35874699)
Labcorp Genetics (formerly Invitae), Labcorp RCV000011670 SCV000762319 pathogenic Granulomatous disease, chronic, X-linked 2018-09-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CYBB are known to be pathogenic (PMID: 9585602, 20729109). This variant has been reported in individuals affected with X-linked chronic granulomatous disease (PMID: 1710153, 11462241, 24999735, 26453586, 20729109). ClinVar contains an entry for this variant (Variation ID: 10923). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg73*) in the CYBB gene. It is expected to result in an absent or disrupted protein product.
Revvity Omics, Revvity RCV000254770 SCV002018093 pathogenic not provided 2022-09-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003398485 SCV004103573 pathogenic CYBB-related disorder 2023-08-15 criteria provided, single submitter clinical testing The CYBB c.217C>T variant is predicted to result in premature protein termination (p.Arg73*). This variant has been reported in individual with X-linked chronic granulomatous disease (Bolscher et al. 1991. PubMed ID: 1710153; Roos et al. 2010. PubMed ID: 20729109; Chan et al. 2022. PubMed ID: 35874699). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in CYBB are expected to be pathogenic. This variant is interpreted as pathogenic.
OMIM RCV000011670 SCV000031902 pathogenic Granulomatous disease, chronic, X-linked 1991-06-01 no assertion criteria provided literature only

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