ClinVar Miner

Submissions for variant NM_000101.4(CYBA):c.274G>A (p.Val92Ile)

gnomAD frequency: 0.00004  dbSNP: rs202179890
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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 RCV000559735 SCV000641917 uncertain significance Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2024-01-20 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 92 of the CYBA protein (p.Val92Ile). This variant is present in population databases (rs202179890, gnomAD 0.01%). This missense change has been observed in individual(s) with meningoencephalitis (PMID: 35960392). ClinVar contains an entry for this variant (Variation ID: 466301). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. RCV001834787 SCV002089436 uncertain significance Chronic granulomatous disease 2019-10-28 no assertion criteria provided clinical testing

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