ClinVar Miner

Submissions for variant NM_000101.4(CYBA):c.134C>T (p.Ala45Val)

gnomAD frequency: 0.00004  dbSNP: rs776963412
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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 RCV001243784 SCV001416966 uncertain significance Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 45 of the CYBA protein (p.Ala45Val). This variant is present in population databases (rs776963412, 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: 968606). 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: "Benign"; Align-GVGD: "Class C15"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. RCV001835183 SCV002089450 uncertain significance Chronic granulomatous disease 2020-03-04 no assertion criteria provided clinical testing

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