ClinVar Miner

Submissions for variant NM_000397.4(CYBB):c.1291G>A (p.Ala431Thr)

dbSNP: rs1929532655
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001239616 SCV001412500 uncertain significance Granulomatous disease, chronic, X-linked 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 431 of the CYBB protein (p.Ala431Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with chronic granulomatous disease (PMID: 24276928). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Fulgent Genetics, Fulgent Genetics RCV002484309 SCV002782022 uncertain significance X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency; Granulomatous disease, chronic, X-linked 2021-08-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828926 SCV002087146 uncertain significance Chronic granulomatous disease 2020-07-14 no assertion criteria provided clinical testing

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