ClinVar Miner

Submissions for variant NM_000101.4(CYBA):c.95G>A (p.Arg32His)

gnomAD frequency: 0.00003  dbSNP: rs368862873
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001297392 SCV001486404 uncertain significance Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2022-02-10 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 32 of the CYBA protein (p.Arg32His). This variant is present in population databases (rs368862873, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CYBA-related conditions. ClinVar contains an entry for this variant (Variation ID: 1001140). 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.
Natera, Inc. RCV001830144 SCV002089454 uncertain significance Chronic granulomatous disease 2020-04-09 no assertion criteria provided clinical testing

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