ClinVar Miner

Submissions for variant NM_000397.4(CYBB):c.772C>G (p.Pro258Ala)

gnomAD frequency: 0.00001  dbSNP: rs1384465552
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002004059 SCV002287725 uncertain significance Granulomatous disease, chronic, X-linked 2022-04-20 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CYBB protein function. This variant has not been reported in the literature in individuals affected with CYBB-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 258 of the CYBB protein (p.Pro258Ala).
Fulgent Genetics, Fulgent Genetics RCV002492336 SCV002797534 uncertain significance X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency; Granulomatous disease, chronic, X-linked 2021-07-23 criteria provided, single submitter clinical testing

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