ClinVar Miner

Submissions for variant NM_000101.4(CYBA):c.173A>G (p.Lys58Arg)

gnomAD frequency: 0.00010  dbSNP: rs200016139
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000642286 SCV000763955 uncertain significance Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2022-07-21 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 58 of the CYBA protein (p.Lys58Arg). This variant is present in population databases (rs200016139, gnomAD 0.05%). 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: 534659). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Eurofins Ntd Llc (ga) RCV000731902 SCV000859770 uncertain significance not provided 2018-03-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000731902 SCV005193607 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV001835039 SCV002089445 uncertain significance Chronic granulomatous disease 2020-02-26 no assertion criteria provided clinical testing

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