ClinVar Miner

Submissions for variant NM_000101.4(CYBA):c.226G>A (p.Val76Met)

gnomAD frequency: 0.00250  dbSNP: rs149344911
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001027779 SCV001053215 likely benign Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2025-02-03 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001027779 SCV001190386 uncertain significance Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 2021-03-30 criteria provided, single submitter clinical testing CYBA NM_000101.3 exon 4 p.Val76Met (c.226G>A): This variant has been reported in the literature in 1 individual with inflammatory bowel disease (Denson 2018 PMID:29454792) and is present in 0.8% (205/24936) of African alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/16-88713224-C-T). Evolutionary conservation for this variant is limited or unavailable; computational predictive tools for this variant suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
GeneDx RCV004797886 SCV005419457 uncertain significance not provided 2024-05-30 criteria provided, single submitter clinical testing Reported in published literature in association with inflammatory bowel disease in an individual who also harbored variants other genes (PMID: 29454792); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29454792)
Natera, Inc. RCV001277895 SCV001464874 likely benign Chronic granulomatous disease 2020-10-13 no assertion criteria provided clinical testing

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