ClinVar Miner

Submissions for variant NM_000101.4(CYBA):c.193A>G (p.Met65Val)

gnomAD frequency: 0.00001  dbSNP: rs1567609300
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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 RCV000695756 SCV000824274 uncertain significance Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 65 of the CYBA protein (p.Met65Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine. This variant is not present in population databases (ExAC no frequency). 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.
GenomeConnect - Invitae Patient Insights Network RCV000695756 SCV001749494 not provided Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 04-25-2018 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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