ClinVar Miner

Submissions for variant NM_000101.4(CYBA):c.475C>T (p.Pro159Ser)

dbSNP: rs558222148
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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 RCV000791637 SCV000930895 uncertain significance Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2022-05-27 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 159 of the CYBA protein (p.Pro159Ser). This variant is present in population databases (rs558222148, gnomAD 0.07%). 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: 638954). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. RCV001271482 SCV001452671 uncertain significance Chronic granulomatous disease 2020-01-24 no assertion criteria provided clinical testing

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