ClinVar Miner

Submissions for variant NM_000101.4(CYBA):c.452C>T (p.Pro151Leu)

gnomAD frequency: 0.00002  dbSNP: rs748716081
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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 RCV001222177 SCV001394265 uncertain significance Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2023-10-03 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 151 of the CYBA protein (p.Pro151Leu). This variant is present in population databases (rs748716081, gnomAD 0.004%). 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: 950463). 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. 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. RCV001828770 SCV002089425 uncertain significance Chronic granulomatous disease 2020-01-24 no assertion criteria provided clinical testing

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