ClinVar Miner

Submissions for variant NM_000101.4(CYBA):c.211A>C (p.Lys71Gln)

gnomAD frequency: 0.00001  dbSNP: rs768968198
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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 RCV001217284 SCV001389118 uncertain significance Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamine at codon 71 of the CYBA protein (p.Lys71Gln). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamine. This variant is present in population databases (rs768968198, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with CYBA-related conditions. 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. RCV001828722 SCV002089440 uncertain significance Chronic granulomatous disease 2019-12-10 no assertion criteria provided clinical testing

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