ClinVar Miner

Submissions for variant NM_000101.4(CYBA):c.539C>T (p.Pro180Leu)

gnomAD frequency: 0.00004  dbSNP: rs1207976536
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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 RCV001205870 SCV001377150 uncertain significance Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 180 of the CYBA protein (p.Pro180Leu). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and leucine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. 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. RCV001828650 SCV002089421 uncertain significance Chronic granulomatous disease 2021-04-05 no assertion criteria provided clinical testing

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