ClinVar Miner

Submissions for variant NM_000101.4(CYBA):c.486G>C (p.Glu162Asp)

dbSNP: rs1907156886
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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 RCV001063808 SCV001228670 uncertain significance Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2022-08-16 criteria provided, single submitter clinical testing 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. 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"). ClinVar contains an entry for this variant (Variation ID: 858015). This variant has not been reported in the literature in individuals affected with CYBA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 162 of the CYBA protein (p.Glu162Asp).
Natera, Inc. RCV001827409 SCV002089423 uncertain significance Chronic granulomatous disease 2021-03-11 no assertion criteria provided clinical testing

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