ClinVar Miner

Submissions for variant NM_000101.4(CYBA):c.269G>A (p.Arg90Gln)

dbSNP: rs104894513
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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 RCV000002346 SCV003443638 pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2023-08-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 90 of the CYBA protein (p.Arg90Gln). This variant is present in population databases (rs104894513, gnomAD 0.003%). This missense change has been observed in individual(s) with chronic granulomatous disease (PMID: 2243141, 29560547, 30470980). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as G-297>A (Arg-90>Gln). ClinVar contains an entry for this variant (Variation ID: 2258). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This variant disrupts the p.Arg90 amino acid residue in CYBA. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 10910929, 20167518). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000002346 SCV000022504 pathogenic Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 1992-11-01 no assertion criteria provided literature only

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