ClinVar Miner

Submissions for variant NM_000101.4(CYBA):c.304G>A (p.Gly102Ser)

gnomAD frequency: 0.00006  dbSNP: rs1325655401
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001057912 SCV001222438 uncertain significance Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 102 of the CYBA protein (p.Gly102Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. 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 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"). 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. RCV001271456 SCV001452617 uncertain significance Chronic granulomatous disease 2020-09-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004757369 SCV005350958 uncertain significance CYBA-related disorder 2024-04-18 no assertion criteria provided clinical testing The CYBA c.304G>A variant is predicted to result in the amino acid substitution p.Gly102Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.027% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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