ClinVar Miner

Submissions for variant NM_000101.4(CYBA):c.293C>T (p.Ser98Leu)

gnomAD frequency: 0.00008  dbSNP: rs201755210
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000822936 SCV000963763 uncertain significance Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 98 of the CYBA protein (p.Ser98Leu). This variant is present in population databases (rs201755210, gnomAD 0.06%). 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: 664770). 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.
CeGaT Center for Human Genetics Tuebingen RCV002292587 SCV002585596 uncertain significance not provided 2022-09-01 criteria provided, single submitter clinical testing
GeneDx RCV002292587 SCV004170128 uncertain significance not provided 2023-10-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33144682, 35344128)
Clinical Genetics Laboratory, Skane University Hospital Lund RCV002292587 SCV005197673 uncertain significance not provided 2022-05-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825668 SCV002089434 uncertain significance Chronic granulomatous disease 2020-02-21 no assertion criteria provided clinical testing

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