ClinVar Miner

Submissions for variant NM_000101.4(CYBA):c.553G>A (p.Val185Ile)

dbSNP: rs1158937022
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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 RCV001308608 SCV001498067 uncertain significance Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 185 of the CYBA protein (p.Val185Ile). The valine residue is weakly conserved and there is a small physicochemical difference between valine and isoleucine. 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. RCV001836281 SCV002089420 uncertain significance Chronic granulomatous disease 2020-01-24 no assertion criteria provided clinical testing

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